What are Datasets?

Datasets are defined file collections, whose access is governed by a Data Access Committee (DAC).

Total number of Datasets: 3709
Displaying 1 - 3709

Dataset Accession Description Technology Samples File Types
EGAD00001002064 Zhong Shan Hospital liver tumor single cell sequencing: 111 single cell and 6 tissues Illumina HiSeq 2500; 117 fastq
EGAD00001000143 Xenograft Seqeuncing Illumina HiSeq 2000, Illumina HiSeq 2000; 16 bam
EGAD00001003422 WXS from barcoded cells that are FACS sorted from GBM-719 xenografts, and the germline reference from patient GBM-719. The 4 xenografts are named according to passage (secondary or tertiary) and treatment (vehicle control or temozolomide). Illumina HiSeq 2500;ILLUMINA 5
EGAD00010000928 WTCCC3_Primary Biliary Cirrhosis Replication Post-QC Illumina ImmunoChip 2,861
EGAD00010000929 WTCCC3_Primary Biliary Cirrhosis Replication Illumina ImmunoChip 2,981
EGAD00010000854 WTCCC3 UK maternal cases of pre-eclampsia Illumina Human670-QuadCustom_v1 1,990
EGAD00010001043 WTCCC3 Anorexia Nervosa Infinium-HumanCoreExome Illumina HumanCoreExome-12v1-0_A and HumanCoreExome-24v1-0_A 925
EGAD00010001034 WTCCC3 Anorexia Nervosa GWAS Illumina Human670-QuadCustom_v1_A 1,696
EGAD00010000640 WTCCC2 Visceral Leishmaniasis samples from Sudanl using Illumina 670k 21
EGAD00010000638 WTCCC2 Visceral Leishmaniasis samples from Indial using Illumina 670k 97
EGAD00010000636 WTCCC2 Visceral Leishmaniasis samples from Brazil using Illumina 670k 119
EGAD00010000232 WTCCC2 samples from Type 2 Diabetes Cohort - Illuminus 2,975
EGAD00010000230 WTCCC2 samples from Hypertension Cohort - Illuminus 2,943
EGAD00010000236 WTCCC2 samples from Coronary Artery Disease Cohort - Illuminus, GenoSNP 3,125
EGAD00010000234 WTCCC2 samples from 1958 British Birth Cohort Illumina HumanExome-12v1_A-GenCall, zCall 12,241
EGAD00010000602 WTCCC2 Reading and Mathematics ability (RM) samples from UK using the Affymetrix 6.0 array 3,665
EGAD00010000730 WTCCC2 Psychosis Endophenotype samples from UK, Germany, Holland, Spain and Australia using the Affymetrix 6.0 array 1
EGAD00000000025 WTCCC2 project Ulcerative Colitis (UC) samples Affymetrix 6.0 2,869
EGAD00010000262 WTCCC2 project Schizophrenia (SP) samples Affyemtrix 6.0 - CHIAMO 3,019
EGAD00000000024 WTCCC2 project samples from National Blood Donors (NBS) Cohort 1
EGAD00000000023 WTCCC2 project samples from National Blood Donors (NBS) Cohort 1
EGAD00010000264 WTCCC2 project samples from Ischaemic Stroke Cohort Illumina_670k - Illuminus 4,205
EGAD00010000150 WTCCC2 project samples from Ankylosing spondylitis Cohort Illumina_670k - Illuminus 2,005
EGAD00000000022 WTCCC2 project samples from 1958 British Birth Cohort Illumina 1.2M 3,000
EGAD00000000021 WTCCC2 project samples from 1958 British Birth Cohort Affymetrix 6.0 3,000
EGAD00000000120 WTCCC2 project Multiple Sclerosis (MS) samples Human670-QuadCustom v1 11,375
EGAD00010000632 WTCCC2 People of the British Isles (POBI) samples using Illumina 1.2M array 2,912
EGAD00010000634 WTCCC2 People of the British Isles (POBI) samples using Affymetrix 6.0 array 2,930
EGAD00010000584 WTCCC2 Glaucoma samples using Illumina 670k array 2,765
EGAD00010000506 WTCCC2 BO (Barretts oesophagus) samples Illumina_670k-Illuminus 1,991
EGAD00010000950 WTCCC2 Bacteraemia Susceptibility (BS) smaples using Affymetrix 6.0 Affymetrix 6.0 4,924
EGAD00000000009 WTCCC1 project Type 2 Diabetes (T2D) samples Affymetrix 500K 1,999
EGAD00000000008 WTCCC1 project Type 1 Diabetes (T1D) samples Affymetrix 500K 2,000
EGAD00000000002 WTCCC1 project samples from UK National Blood Service Affymetrix 500K 1,500
EGAD00000000001 WTCCC1 project samples from 1958 British Birth Cohort Affymetrix 500K 1,504
EGAD00000000014 WTCCC1 project samples from 1958 British Birth Cohort Illumina 15K 1,504
EGAD00010001004 WTCCC1 project samples from 1958 British Birth Cohort Infinium 550K 1,504
EGAD00000000007 WTCCC1 project Rheumatooid arthritis (RA) samples Affymetrix 500K 1,999
EGAD00000000012 WTCCC1 project Multiple Sclerosis (MS) samples Illumina 15K 975
EGAD00000000005 WTCCC1 project Inflammatory Bowel Disease (IBD) samples Affymetrix 500K 2,005
EGAD00000000006 WTCCC1 project Hypertension (HT) samples Affymetrix 500K 2,001
EGAD00000000004 WTCCC1 project Coronary Artery Disease (CAD) samples Affymetrix 500K 1,998
EGAD00000000013 WTCCC1 project Breast cancer (BC) samples Illumina 15K 1,004
EGAD00000000003 WTCCC1 project Bipolar Disorder (BD) samples Affymetrix 500K 1,998
EGAD00000000011 WTCCC1 project Autoimmune Thyroid Disease (ATD) samples Illumina 15K 900
EGAD00000000010 WTCCC1 project Ankylosing Spondylitis (AS) samples Illumina 15K 957
EGAD00000000016 WTCCC project Tuberculosis (TB) samples Affymetrix 500K 1,498
EGAD00000000056 WTCCC project samples from the primary biliary cirrhosis cohort Illumina 610K Quad 1,705
EGAD00000000057 WTCCC project samples from the Parkinson's disase cohort Illumina 610K Quad 1,705
EGAD00000000015 WTCCC project African control samples Affymetrix 500K 1,496
EGAD00001000385 Wholegenome libraries will be prepared from at least two serial samples reflecting different stages of disease progression and matched constitutional DNA for 30 Myeloproliferative Disease samples. Five lanes of Illumina HiSeq sequencing will be performed on each of the tumour samples and four lanes for each of the constitutional DNA. Sequencing data will mapped to build 37 of the human reference genome and analysis will be performed to characterize the spectrum of somatic variation present in these samples including single base pair mutations, insertions, deletions as well as larger structural variants and genomic rearrangements. Illumina HiSeq 2000; 108 bam,cram
EGAD00001000386 Wholegenome libraries will be prepared from at least two serial samples reflecting different stages of disease progression and matched constitutional DNA for 30 Myelodysplastic syndrome patient samples. Five lanes of Illumina HiSeq sequencing will be performed on each of the tumour samples and four lanes for each of the constitutional DNA. Sequencing data will mapped to build 37 of the human reference genome and analysis will be performed to characterize the spectrum of somatic variation present in these samples including single base pair mutations, insertions, deletions as well as larger structural variants and genomic rearrangements. Illumina HiSeq 2000; 83 bam,cram
EGAD00001001629 Whole-genome somatic rearrangement and point mutation analysis in cell lines with induced telomere fusions. HiSeq X Ten; 20 cram
EGAD00001000782 Whole-genome sequencing was performed by Illumina Inc (San Diego, CA). Libraries were constructed with ~300bp insert length and paired-end 100bp reads were sequenced on Illumina HiSeq2000. Illumina HiSeq 2000;ILLUMINA 190
EGAD00001002092 Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 5
EGAD00001002089 Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 25
EGAD00001003373 Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002085 Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 12
EGAD00001002090 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 1
EGAD00001002086 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 1
EGAD00001003376 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 12
EGAD00001002091 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 38
EGAD00001003374 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 8
EGAD00001002087 Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 19
EGAD00001003371 Whole-genome sequencing on Illumina HiSeq2000/2500 of normal colon control tissue (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002083 Whole-genome sequencing on Illumina HiSeq2000/2500 of normal colon control tissue Illumina HiSeq 2000; 2
EGAD00001003375 Whole-genome sequencing on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 7
EGAD00001002088 Whole-genome sequencing on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample Illumina HiSeq 2000; 87
EGAD00001003372 Whole-genome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 4
EGAD00001002084 Whole-genome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample Illumina HiSeq 2000; 23
EGAD00001003370 Whole-genome sequencing on Illumina HiSeq2000/2500 of Blood EDTA (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 10
EGAD00001002082 Whole-genome sequencing on Illumina HiSeq2000/2500 of Blood EDTA Illumina HiSeq 2000; 69
EGAD00001002742 Whole-genome sequencing data from Chad and Lebanon. HiSeq X Ten;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 15 cram
EGAD00001001636 Whole-genome sequencing at 4x of 250 samples from the Greek isolate collection HELIC Illumina HiSeq 2000; 250 bam
EGAD00001001637 Whole-genome sequencing at 1x of samples from the Cretan Greek isolate collection HELIC-MANOLIS. Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on an isolated population from Crete, Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation. Illumina HiSeq 2000; 1,003 bam,cram
EGAD00001003407 Whole-genome sequencing and phasing of admixed Aboriginal Australian genomes and Papua New Guinean genomes using 10x Genomics Chromium technology. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-06-27. HiSeq X Ten;ILLUMINA 4
EGAD00001000672 Whole-genome Bisulfite sequencing of two multiple myeloma samples and one pooled sample of plasma cells. Illumina HiSeq 2000; 3 bam
EGAD00001000042 Whole-Exome-Seq-Dataset Illumina Genome Analyzer IIx 30 bam
EGAD00001000286 Whole-exome study of congenital macrothrombocytopenia Illumina HiSeq 2000; 21 fastq
EGAD00001002103 Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 5
EGAD00001002100 Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 25
EGAD00001003380 Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002096 Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 12
EGAD00001002101 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 1
EGAD00001002097 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 1
EGAD00001003384 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 14
EGAD00001003363 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (EPO2_cohort) Illumina HiSeq 2000;ILLUMINA 114
EGAD00001002102 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 38
EGAD00001003381 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 10
EGAD00001002098 Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 19
EGAD00001003378 Whole-exome sequencing on Illumina HiSeq2000/2500 of normal colon control tissue (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002094 Whole-exome sequencing on Illumina HiSeq2000/2500 of normal colon control tissue Illumina HiSeq 2000; 2
EGAD00001003383 Whole-exome sequencing on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 7
EGAD00001002099 Whole-exome sequencing on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample Illumina HiSeq 2000; 55
EGAD00001003379 Whole-exome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 4
EGAD00001002095 Whole-exome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample Illumina HiSeq 2000; 14
EGAD00001003377 Whole-exome sequencing on Illumina HiSeq2000/2500 of Blood EDTA (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 10
EGAD00001002093 Whole-exome sequencing on Illumina HiSeq2000/2500 of Blood EDTA Illumina HiSeq 2000; 33
EGAD00001002106 Whole-exome sequencing on AB 5500xl Genetic Analyzer of Patient-derived xenograft derived from colorectal cancer metastasis sample AB 5500xl Genetic Analyzer; 1
EGAD00001003386 Whole-exome sequencing on AB 5500xl Genetic Analyzer of colorectal cancer primary tumor sample (OT2_cohort) AB 5500 Genetic Analyzer;ABI_SOLID 1
EGAD00001002107 Whole-exome sequencing on AB 5500xl Genetic Analyzer of colorectal cancer primary tumor sample AB 5500xl Genetic Analyzer; 66
EGAD00001002105 Whole-exome sequencing on AB 5500xl Genetic Analyzer of colorectal cancer metastasis sample AB 5500xl Genetic Analyzer; 16
EGAD00001003385 Whole-exome sequencing on AB 5500xl Genetic Analyzer of Blood EDTA (OT2_cohort) AB 5500 Genetic Analyzer;ABI_SOLID 1
EGAD00001002104 Whole-exome sequencing on AB 5500xl Genetic Analyzer of Blood EDTA AB 5500xl Genetic Analyzer; 76
EGAD00001003331 Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 78
EGAD00001001460 Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2015-08-05. Illumina HiSeq 2000; 62 cram
EGAD00001000997 Whole-exome sequencing of a chronic lymphocytic leukemia (CLL) developed during vemurafenib treatment of a patient with malignant melanoma. Peripheral blood mononuclear cells were separated by Ficoll gradient centrifugation. DNA was extracted from highly purified (>97%) CD19+CD5+ cells obtained from the patient while being under BRAF inhibition versus CD14+ germline control cells (>90% purity). No alterations that could be linked to aberrant RAS activity or paradoxical RAF/MEK/ERK signaling could be identified in the CLL, which shows characteristic copy number alterations. Illumina HiSeq 2500; 2 fastq
EGAD00001001410 Whole-exome sequencing of 81 tumor/normal pairs of adult T-cell leukemia/lymphoma Illumina HiSeq 2000; 162 bam
EGAD00001001105 Whole-exome sequencing in 16 RMS cases Whole-transcriptome sequencing in 8 RMS cases Illumina HiSeq 2000; 38 bam
EGAD00001002747 Whole-exome sequencing (WES) of 216 breast cancer metastasis-normal pairs from patients who underwent a biopsy in the context of the SAFIR01, SAFIR02, SHIVA or MOSCATO prospective trials (France). Illumina HiSeq 2500;ILLUMINA, NextSeq 500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 432
EGAD00001003820 Whole transcriptome, strand-specific RNA-seq libraries were prepared from total RNA purified using RNeasy mini kit (Qiagen) using Ribo-Zero technology (Epicentre, an Illumina company) for depletion of rRNA followed by library preparation using ScriptSeq ScriptSeq RNA-Seq Library preparation Kit from Illumina. The paired raw sequence reads were processed using TopHat2 and mapped to the humane reference genome HG19. NextSeq 500;ILLUMINA 16
EGAD00001000609 Whole transcriptome sequencing of 28 untreated prostate cancers, 13 castration resistant prostate cancers, and 12 benign prostatic hyperplasias. Illumina HiSeq 2000; 53
EGAD00001002151 Whole transcriptome sequencing of 231 children with newly-diagnosed ALL Illumina HiSeq 2000;ILLUMINA 231 fastq
EGAD00000000114 Whole transcriptome sequence data from 18 ovarian clear-cell carcinoma samples and one TOV21G ovarian clear-cell carcinoma cell line Illumina Genome Analyzer II 1
EGAD00001003586 Whole Genomes Define Concordance in Matched Primary, Xenograft, and Organoid Models of Pancreas Cancer - WGS mapped reads 54
EGAD00001003220 Whole genome, whole exome, and custom panel sequencing of high-grade meningioma cohort 188
EGAD00001000781 Whole genome, high coverage, sequencing of 128 Ashkenazi Jewish controls 128 vcf
EGAD00001001228 Whole genome shotgun sequencing assays for reference epigenomes generated by Centre for Epigenome Mapping Technologies at Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. 27 bam,vcf
EGAD00001001466 Whole Genome sequencing. 2 ?g of genomic DNA from each sample was used for the construction of two short-insert paired-end sequencing libraries. Both types of libraries were sequenced in paired-end mode on Illumina GAIIx (2 × 151 bp) using Sequencing kit v4 or Illumina HiSeq2000 (2x101 bp) using TruSeq SBS Kit v3. 300 bam
EGAD00001001273 Whole genome sequencing was performed with DNA extracted from fresh-frozen tumor and normal material. Short insert DNA libraries were prepared with the TruSeq DNA PCRfree sample preparation kit (Illumina) for paired-end sequencing at a minimum read length of 2x100bp. Human DNA libraries were sequenced to an average coverage of minimum 30x for both tumor and matched normal. Murine DNA libraries of tumor and matched normal were both sequenced to a coverage of 25x. Illumina HiSeq 2000; 100 bam
EGAD00001000972 Whole Genome Sequencing to track subclonal heterogeneity in 18 samples from 3 Chronic Lymphocytic Leukemia patients subjected to repeated cycles of therapy. Illumina HiSeq 2500; 18 bam
EGAD00001003216 Whole genome sequencing of tumour normal pairs of human undifferentiated sarcomas. HiSeq X Ten;ILLUMINA 98
EGAD00001001447 Whole genome sequencing of single cell derived organoids from normal colon tissue and colorectal cancer. HiSeq X Ten; 19 cram
EGAD00001001326 Whole genome sequencing of single adult t-cell leukemia/lymphoma case Illumina HiSeq 2000; 2 bam
EGAD00001000221 Whole genome sequencing of SCLC tumor/normal samples Illumina HiSeq 2000; 4 fastq
EGAD00001003812 Whole genome sequencing of sampels from isolated populations from Croatia. The samples are sequenced using the Illumina HiSeq X Ten system. This dataset contains all the data available for this study on 2017-11-22. HiSeq X Ten;ILLUMINA 20
EGAD00001001266 Whole genome sequencing of primary angiosarcoma HiSeq X Ten; 12 cram
EGAD00001002006 Whole genome sequencing of paediatric glioblastoma in the ICGC PedBrain project Illumina HiSeq 2500; 115 fastq
EGAD00001001386 Whole Genome Sequencing of Huh7 cell lines Illumina HiSeq 2000; 2 fastq
EGAD00001001458 Whole genome sequencing of EBV-transformed B cells in order to determine whether EBV induction of activation-induced cytidine deaminase (AID) produces genome-wide mutations and/or chromosomal rearrangements. HiSeq X Ten; 12 cram
EGAD00001000214 Whole genome sequencing of colon samples Illumina HiSeq 2000; 11 fastq
EGAD00001002684 Whole genome sequencing of 98 tumour-normal pairs for the PAEN-AU pancreatic neuroendocrine cancer project. 196 bam
EGAD00001003189 Whole genome sequencing of 8 HER2-Positive Breast Cancer (in complement to EGAD00001001844) Illumina HiSeq 2000;ILLUMINA 16
EGAD00001001844 Whole genome sequencing of 64 HER2-Positive Breast Cancer Illumina HiSeq 2000; 128 bam
EGAD00001001412 Whole genome sequencing of 48 tumor/normal pairs obtained from adult T-cell leukemia/lymphoma. This data set includes 11 full-pass WGS and 37 low-pass WGS data. Illumina HiSeq 2000;, HiSeq X Ten; 96 bam
EGAD00001002721 Whole genome sequencing of 300 individuals from 142 diverse populations Illumina HiSeq 2000;ILLUMINA 21 bam
EGAD00001000705 Whole genome sequencing of 20 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG) Illumina HiSeq 2000; 40 bam
EGAD00001002897 Whole genome sequencing libraries from the study "Histological Transformation and Progression in Follicular Lymphoma: a Clonal Evolution Study". These are libraries from 41 patients. Specifically: 15 transformed follicular lymphoma (TFL), 6 early progressers (PFL), and 20 non-early progressers (NPFL). For TFL and PFL patients, trios consisting of diagnostic (T1), transformed/progressed (T2) and a matching normal are available (n = 63 libaries in total). For NPFL patients, a tumor-normal pair are available (n = 40 libraries). 103
EGAD00001003435 Whole Genome Sequencing for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors" Illumina HiSeq 2000;ILLUMINA 150
EGAD00001001635 Whole genome sequencing detected structural rearrangements of TERT in 17/75 high stage neuroblastoma with 5 cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted immediate up- and down-stream regions of TERT, placing in 7 cases a super-enhancer close to the breakpoints. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high stage neuroblastoma, each associated with very poor prognosis. This submission contains all newly sequenced samples only. study_refcenter AMC 42 other
EGAD00001002734 Whole Genome Sequencing data set for the study "Premalignant SOX2 in ovarian cancer patients" Complete Genomics (COMPLETE_GENOMICS) 39
EGAD00001003163 Whole genome sequencing data of 20 carcinosarcomas. Illumina HiSeq 2000;ILLUMINA 23
EGAD00001003115 Whole genome sequencing data of 15 French Caucasian and 10 African-Caribbean men with prostate Cancer. Illumina HiSeq 2000;ILLUMINA 50
EGAD00001000691 Whole genome sequencing data from Illumina platform were generated using 10 human cancer cell lines and 2 primary tumor samples. Nine of these samples contained fragments of human papillomavirus (HPV). 12 bai,bam
EGAD00001003751 Whole genome sequencing data for primary tumors, matching control material from blood and their corresponding organoid. Whole transcriptome data for organoids. HiSeq X Ten;ILLUMINA, NextSeq 500;ILLUMINA 102
EGAD00001003274 Whole genome sequencing data for MMML (tumor/control pairs and one cell_line) 315
EGAD00001003283 Whole genome sequencing data for MMML (healthy cell_line) 24
EGAD00001003210 Whole genome sequencing data for MMML (cell_line) 8
EGAD00001003286 Whole genome sequencing data for MMML (7 tumors and 8 controls) 15
EGAD00001003207 Whole genome sequencing data for MMML (28 tumor/control pairs) 56
EGAD00001003276 Whole genome sequencing data for MMML (24 tumor/control pairs), fastq-files Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 49
EGAD00001003208 Whole genome sequencing data for MMML (12 tumor/control pairs) Illumina HiSeq 2000;ILLUMINA 25
EGAD00001000950 Whole genome sequencing data for ependymomas (5 tumor-control pairs). See Mack, Witt et al. Nature 506(7489):445-50, 2014 (PMID: 24553142). 10 bam
EGAD00001000292 Whole genome sequencing analysis was performed on 6 patients within matched germline, follicular lymphoma and transformed follicular lymphoma. Illumina HiSeq 2000; 20 bam
EGAD00001000806 Whole Genome Sequencing (WGS) for St. Jude High Grade Glioma (HGG) study Illumina HiSeq 2000 (ILLUMINA) 63 bam
EGAD00001001995 Whole genome sequencing (30X) using Hiseq X TEN on 4 HCC cell lines, primary HCCs and early-passage PDCs. HiSeq X Ten; 12 fastq
EGAD00001001120 Whole Genome Sequencing Illumina HiSeq 2000;, Illumina HiSeq 2500; 64 fastq
EGAD00001001662 Whole genome sequences of ACC primagrafts, Histone modification maps and transcription factor binding maps for ACC primagrafts and primary tumors. Processed ChIP-seq data is available on GEO under accession number GSE76465. Illumina MiSeq;, Illumina HiSeq 2000;, NextSeq 500;, Illumina HiSeq 2500; 58 bam,fastq
EGAD00001000664 Whole Genome Seq: Illumina HiSeq sequence data (with >30x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed. Paired-end RNA sequencing reads were mapped to the hg19 assembly of the human reference genome using BWA. Each ChIP-seq library was sequenced with two complete lanes on the Illumina HiSeq 2500 in the 101-bases paired-end rapid mode and aligned to hg19 using bwa. This resulted in the following coverage values (genome-wide, after deduplication, including all uniquely mapping reads): GBM103 macroH2A1: 17x H3K36me3: 20x MB59 macroH2A1: 11x H3K36me3: 11x 7 bam
EGAD00001000177 Whole Genome Methylation in CLL Illumina Genome Analyzer IIx; 6 fastq
EGAD00001000689 Whole genome DNA sequencing was used to decrypt the phylogeny of multiple samples from distinct areas of cancer and morphologically normal tissue taken from the prostates of 3 men. We found that mutations were already present at high levels in morphologically normal tissue distant from the cancer suggesting clonal expansion. A subgroup of these mutations are present in adjacent cancer. A single nodule of cancer may contain multiple, predominantly genetically independent cancer clones each harbouring distinct ERG fusions. Separate lineages of cancer were in some cases connected by common low frequency mutations. Together our observations support the existence of a genetic field-effect underlying carcinogenesis The presence of a field effect, and of multiple cancer lineages within the same prostate pose serious questions regarding the effectiveness of focal therapy in those with a long life expectancy and imply that predicting future behaviour based on genetic analysis of single tumour sample may be unreliable. For each of three different prostates, multiple tumour samples (4, 5, and 3 depending on the case) and one normal tissue sample were whole genome sequenced with a matched blood sample using the Illumiuna HiSeq platform. Tumour samples were sequenced to a target depth of 50X and normals and blood to a target depth of 30X. Illumina HiSeq 2000; 18 bam
EGAD00001001034 Whole genome data (Complete genomics platform) for the study EGAS00001000824 24 other
EGAD00001000710 Whole Genome Bisulfite-seq of four B cell samples Illumina HiSeq 2000; 4 bam
EGAD00001001891 Whole genome bisulfite sequencing of pedbrain - medulloblastoma Illumina HiSeq 2000; 10 fastq
EGAD00001000966 Whole genome bisulfite sequencing data for 6 ependymomas plus 3 fetal controls (f1, f2, f4) and 3 adult controls (a2, a3, a4). See Mack, Witt et al. Nature 506(7489):445-50, 2014 (PMID: 24553142). Illumina HiSeq 2000; 14 readme_file
EGAD00001001119 Whole Genome Bisulfite Sequencing Illumina HiSeq 2000;, Illumina HiSeq 2500; 26 fastq
EGAD00001000814 Whole genome alignments of DIPG patients 40 bam,phenotype_file
EGAD00001001660 Whole exome sequencing was performed to explore the mutational landscape and potential molecular signature of HPV-positive versus HPV-negative OAC. Four hr-HPV-positive and 8 HPV-negative treatment-naive fresh-frozen OAC tissue specimens and matched normal tissue were analysed to identify somatic genomic mutations 24 bam
EGAD00001003800 Whole Exome Sequencing was performed in a dilution series containing known amounts of human and mouse DNA, 3x 100% human 0% mouse, 2x 90/10, 3x 50/50, 2x 25/75 and 3x 0/100. A set of breast cancer clinical samples, matched normal tissue and matched PDTXs (total number = 14) were also analysed. Paired-end 75bp sequences for the dilution series and paired-end 125bp for the clinical samples were obtained on Illumina HiSeq2500; fastq files are provided. A triplicate analysis of the transcriptome using RNA-seq was also performed for the Universal Human RNA Reference and the Universal Mouse RNA Reference samples. Paired-end 150bp fastq files obtained on Illumina HiSeq4000 are provided. Illumina HiSeq 2500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 12
EGAD00001003509 Whole Exome Sequencing reads consisting of BAM paired end reads from Follicular Lymphoma samples. 11
EGAD00001002731 whole exome sequencing of tumor- as well as PBMC-derived DNA of five melanoma patients for identification of naturally presented patient-specific neoepitopes Illumina HiSeq 2000;ILLUMINA 10
EGAD00001000299 Whole exome sequencing of samples selected from the Finrisk sample collection. The samples sequenced in this study have all been collected in Kuusamo, Finland. Illumina HiSeq 2000; 24 bam
EGAD00001000382 Whole Exome Sequencing of Permanent Neonatal Diabetes Patients Illumina HiSeq 2000; 25 bam
EGAD00001003762 Whole Exome sequencing of paediatric High Grade Gliomas Illumina HiSeq 2000;ILLUMINA 100
EGAD00001000792 Whole exome sequencing of paediatric glioblastoma with mutations reported in the manuscript: Mutations in ACVR1, FGFR1 and TP53 associate with tumor location in histone H3 K27M pediatric midline high-grade astrocytoma Illumina HiSeq 2000; 38 fastq
EGAD00001003246 Whole exome sequencing of hepatosplenic T cell lymphoma (HSTL) tumors, paired normals, and cell lines, including (1) 68 exome capture, paired-end Illumina Hiseq sequencing, BAM files from HSTL tumor samples, (2) 20 exome capture, paired-end Illumina Hiseq sequencing, BAM files from HSTL paired normal samples, and (3) 2 exome capture, paired-end Illumina Hiseq sequencing, BAM files from HSTL cell lines. Illumina HiSeq 2500;ILLUMINA 90
EGAD00001002200 Whole exome sequencing of families with Congenital Heart Defects (182 trios). Collaboration with David Brook, University of Nottingham. Illumina HiSeq 2000; 541 cram
EGAD00001003284 Whole exome sequencing of enteropathy-associated T cell lymphoma (EATL) tumors and paired normals, as well as RNA-sequencing of EATL tumors: including (1) 69 exome capture, paired-end Illumina Hiseq sequencing, BAM files from EATL tumor samples, (2) 36 exome capture, paired-end Illumina Hiseq sequencing, BAM files from EATL paired normal samples, and (3) 32 RNAseq, paired-end Illumina Hiseq sequencing, BAM files from EATL tumor samples. Illumina HiSeq 2500;ILLUMINA 137
EGAD00001003563 Whole exome sequencing of diffuse intrinsic pontine glioma (DIPG) cells isolated from the pons and from a sub-ventricular zone site of spread within the frontal lobe from the same individual (SU- DIPG-XIII) Illumina HiSeq 2000;ILLUMINA 3 sample
EGAD00001001354 Whole exome sequencing of around 700 inflammatory bowel disease cases.This data can only be used for the identification of IBD/immune-mediated disease loci. Illumina HiSeq 2000; 702 cram
EGAD00001002221 Whole exome sequencing of a subset of participants from the INTERVAL study. Illumina HiSeq 2000; 4,502
EGAD00001002707 Whole exome sequencing of a normal sample, primary tumor sample, and relapse tumor sample of a transformed non-Hodgkins follicular lymphoma patient with extraordinary response to treatment. Illumina HiSeq 2000;ILLUMINA 3 fastq
EGAD00001003788 Whole Exome Sequencing of 9 Colorectal Cancer (CRC) samples performed on Illumina HiSeq4000 consisting of aligned paired reads. RNAseq data sequenced on Illumina NextSeq500 consisting of FASTQ single reads from 3 CRC colon samples. A total of 12 samples from five patients (we matched normal tissue or pbmc and tumors) were sequenced on Illumina NextSeq500. NextSeq 500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 24
EGAD00001000706 Whole exome sequencing of 6 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG) Illumina HiSeq 2000; 12 bam
EGAD00001000811 Whole exome sequencing of 6 HCCs and matched background liver in children with bile salt export pump deficiency. Illumina HiSeq 2000; 12 fastq
EGAD00001000775 Whole exome sequencing of 41 melanomas and normal DNA from Braf mutant mice: 15 tumours from UV exposed mice, 15 tumours from non-exposed mice and 11 from UV exposed, sunscreen-protected mice. Illumina HiSeq 2000; 80 bam
EGAD00001003301 Whole exome sequencing of 10 metastatic biopsies from four TRACERx100 patients (see EGA dataset EGAS00001002247), collected either after relapse or death. The data from these samples are initially published with Abbosh, C. et al. Phylogenetic ctDNA analysis depicts early stage lung cancer evolution. Nature, http://dx.doi.org/10.1038/nature22364 (2017). Abstract: Earlier detection of relapse following primary surgery for non-small cell lung cancer and the characterization of emerging subclones seeding metastatic sites might offer new therapeutic approaches to limit tumor recurrence. The potential to non-invasively track tumor evolutionary dynamics in ctDNA of early-stage lung cancer is not established. Here we conduct a patient-specific approach to ctDNA profiling in the first 100 lung TRACERx (TRAcking Cancer Evolution through therapy (Rx)) study participants, including one patient co-recruited to the PEACE (Posthumous Evaluation of Advanced Cancer Environment) post-mortem study. We identify independent predictors of ctDNA release in early-stage non-small cell lung cancer and perform tumor volume limit of detection analyses. Through blinded profiling of post-operative plasma, we observe evidence of adjuvant chemotherapy resistance and identify patients destined to experience recurrence of their lung cancer. Finally, we show that phylogenetic ctDNA profiling tracks the subclonal nature of lung cancer relapse and metastases, providing a new approach for ctDNA driven therapeutic studies. 10
EGAD00001003434 Whole Exome Sequencing for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors" Illumina HiSeq 2000;ILLUMINA 149
EGAD00001002152 Whole exome sequencing for the matched germline and tumor DNA from 10 ALL cases with ZNF384 rearrangements. Illumina HiSeq 2000;ILLUMINA 20 fastq
EGAD00001000024 Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders. Illumina Genome Analyzer II 4 srf
EGAD00001002145 Whole exome sequencing data of primary, secondary and tertiary tumor from a patient. Illumina HiSeq 2500; 4 fastq
EGAD00001001301 Whole exome sequencing data of 5 patients diagnosed with FL that had undergone several relapse episodes without evidence of transformation Illumina HiSeq 2500; 29 bam
EGAD00001000987 Whole exome sequencing data from tumor and normal samples from carcinosarcoma (malignant mixed mullerian tumor) patients Illumina HiSeq 2000; 44
EGAD00001001596 Whole Exome Sequencing data from the germline of the patient as well as the tumors in bone marrow (T-ALL), Liver (Histiocytic Sarcoma) and ileum (non-Langerhans Cell Histiocytosis). AB 5500xl Genetic Analyzer; 4 bam
EGAD00001000737 Whole exome sequencing data from 30 donors (46 tumors and 30 non-tumoral whole exome sequencing, paired-end, HiSeq 2000, Illumina) collected by the Inserm U674, PI Jessica Zucman-Rossi - Institut National du Cancer (INCa), PI Fabien Calvo, France. Illumina HiSeq 2000; 76 bam
EGAD00001003130 Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017. Illumina HiSeq 2500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 21
EGAD00001000951 Whole exome sequencing data for ependymomas (42 tumor-control pairs). See Mack, Witt et al. Nature 506(7489):445-50, 2014 (PMID: 24553142). 84 bam
EGAD00001000996 Whole exome sequencing data for AML and matched normal samples Illumina HiSeq 2500; 16 bam
EGAD00001001333 Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders. Illumina HiSeq 2000; 28 bam
EGAD00001002656 Whole exome sequencing BAM files and whole genome sequencing CRAM files for 722 individuals from the NIHR-BioResource Rare Diseases Consortium (SPEED project) with inherited retinal disease. Illumina HiSeq 2000;ILLUMINA 767
EGAD00001000822 Whole exome sequencing and miRNA-seq data of PPB. Illumina MiSeq;, Illumina HiSeq 2000; 18 bam
EGAD00001001033 Whole exome sequencing (WES) was performed on genomic DNA derived from two patients with Sotos Syndrome Features. Sequencing (100 base pair paired-end) was performed on an Illumina Hiseq 2000 sequencer after enrichment of 62Mb of exonic and adjacent intronic sequences with TruSeq Exome Enrichment Kit (Illumina, San Diego, CA, USA). Illumina HiSeq 2000; 2 fastq
EGAD00001000807 Whole Exome Sequencing (WES) for St. Jude High Grade Glioma (HGG) study Illumina HiSeq 2000; 148 bam
EGAD00001003339 Whole exome library making will be performed on genomic DNA derived from radiotherapy induced sarcoma samples and matched normal DNA from the same patients. Next Generation sequencing will be performed on the resulting libraries and mapped to build 37 of the human reference genome to facilitate the identification of mutations This dataset contains all the data available for this study on 2017-05-17. Illumina HiSeq 2000;ILLUMINA 7
EGAD00001003278 Whole Exome and Target Sequencing Data in 75 Samples from 5 Hepatocellular Carcinoma Patients. The sequencing was performed by Illumina HiSeq 4000. Background and aims: Intratumoral heterogeneity (ITH) challenges identifying mutations with target therapy potential whereas circulating cell-free DNAs (cfDNAs) could reflect nearly the entire mutation spectrum in given tumors. We investigated how to minimize the limit of ITH for profiling hepatocellular carcinoma (HCC).Methods: Thirty-two multi-regional HCC samples from five patients were subjected to whole exome sequencing (WES) and targeted deep sequencing (TDS). ITH extent was measured by the average percentage of non-ubiquitous mutations (present in parts of tumor regions). Matched cfDNAs were also analyzed by WES and TDS. Profiling efficiencies of single tumor specimen and cfDNA were compared and the one better depicted mutational landscape was selected to screen therapeutic targets.Results: We found variable extents of ITH in HCCs and observed branched and parallel evolution patterns. ITH level decreased at higher sequencing depth of TDS than that measured by WES (28.1% vs 34.9%, P < 0.01) but it remained unchanged upon additional samples analyzed. TDS of single tumor specimen detected an average of 70% the total mutations in HCC. Although more mutations were detected in cfDNA under TDS than WES, an average of 47.2% total HCC mutations uncovered by cfDNA suggested tissue outperform cfDNA and the latter may serve as alternative in profiling HCC genome. Consequently, TDS of single tumor tissue in 66 patients and cfDNAs in four unresectable HCCs identified 38.6% (26/66 and 1/4) patients bearing therapeutic targets.Conclusions: TDS of single tumor specimen could largely circumvent ITH to uncover mutations indicative of target therapy in HCC. Illumina HiSeq 4000;ILLUMINA 124
EGAD00010000952 Where Are You From? samples types at 517K SNP loci Illumina HumanOmniExpress-24 BeadChip 598
EGAD00001003782 When available (25 primary MDS, 12 MDS/MPN, and 6 AML-MRC cases), high quality RNA (stranded-total) was submitted for RNA-seq. RNA was extracted from bulk myeloid cells which was used as the tumor population. Files uploaded are mapped BAM files. Illumina HiSeq 2000;ILLUMINA 43
EGAD00001003842 WGS sequencing for 367 tumor normal pairs from ICGC ESAD-UK project Tumors 50x Normals 30x HiSeq X bam files These samples are all available in ICGC release 27 Illumina HiSeq 2000;ILLUMINA 746
EGAD00001003580 WGS sequencing for 310 tumor normal pairs from ICGC ESAD-UK project Tumors 50x Normals 30x HiSeq X bam files These samples are all available in ICGC release 26 Illumina HiSeq 2000 (ILLUMINA) 620
EGAD00001001467 WGS of 8 trios - affected child and both normal parents 24
EGAD00001003271 WGS of 23 patients diagnosed with NKTL. The tumor samples were sequenced with Illumina HiSeq 2500 platform and the resulting FASTq files have been uploaded. Illumina HiSeq 2000 (ILLUMINA) 23
EGAD00001000865 WGS of 14 paired samples of Bladder Cancer patient Illumina HiSeq 2000; 28 bam
EGAD00001002528 WGS from EGAS00001001857 Illumina HiSeq 2000; 18
EGAD00001003156 WGS files for SJMDS paper titled 'Genomic Landscape of Pediatric Myelodysplastic Syndromes' Illumina HiSeq 2000 (ILLUMINA) 4
EGAD00001003127 WGS data of medulloblastoma tumor/control pairs. 482
EGAD00001003126 WGS data of medulloblastoma tumor/control pairs. 74
EGAD00001003125 WGS data of medulloblastoma tumor/control pairs. 224
EGAD00001002138 WGS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 36 fastq
EGAD00001002244 WGS data for cell lines and patient samples Illumina HiSeq 2500; 4 fastq
EGAD00001000976 WGS DATA FILES FOR SJPhLike Illumina HiSeq 2000; 80 bam
EGAD00001000673 WGBS-seq for monocytes and neutrophils Illumina HiSeq 2000; 12 bam,readme_file
EGAD00001000366 WGBS data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. Illumina HiSeq 2000; 52 bam
EGAD00001002137 WGBS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 15 fastq
EGAD00001003821 WES was performed using the KAPA-Hyper prep kit from Illumina (Roche, Basel, Switzerland) for library construction, followed by exome capture using Niblegen SeqCap EZ Human Exome Library v3.0 (Roche). Reads were mapped using BWA MEM against the humane reference genome HG19. NextSeq 500;ILLUMINA 42
EGAD00001002736 WES of human: A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi WES (Agilent SureSelect All Exon XT2 50 Mb kit) has been realized on three affected siblings (II.1, II.3, II.5) and one healthy sister (II.4). Raw data (BAM files) are provided: - II.1.aligned.sorted.dedup.realign.recal.bam - II.3.aligned.sorted.dedup.realign.recal.bam - II.5.aligned.sorted.dedup.realign.recal.bam - II.4.aligned.sorted.dedup.realign.recal.bam Illumina HiSeq 2500; 4 bam
EGAD00001001249 WES of HCC by HiSeq 2000,total 71 samples including Hepatocellular carcinoma cell lines and nornal sample(Peripheral Blood or the adjacent tissues of cancer) Illumina HiSeq 2000; 71 fastq
EGAD00001003155 WES files for SJMDS paper titled 'Genomic Landscape of Pediatric Myelodysplastic Syndromes' Illumina HiSeq 2000 (ILLUMINA) 6
EGAD00001000324 We will sequence the RNA of lymphoblast samples, transformed with EBV, which have poikiloderma syndrome with mutations in c16orf57. The aim of the experiment is to characterise RNA structural effects in this disease. Illumina HiSeq 2000; 4 bam
EGAD00001003556 We will perform RNAseq to evaluate the effects of the loss of a list of TSGs on the transcriptome. This dataset contains all the data available for this study on 2017-08-10. Illumina HiSeq 2500;ILLUMINA 25
EGAD00001000410 We will perform exome sequencing on selected cases of splenic marginal zone lymphoma (SMZL) and diffuse large B-cell lymphoma (DLBCL) in order to characterise their genetic makeup and identify biomarkers for prognosis and prediction of treatment response. Illumina HiSeq 2000; 78 bam,cram
EGAD00001000762 We utilized exome sequencing for DNA obtained from saliva (germline DNA) and the four spatially separated tumor foci and 3 corresponding lymph node metastases Illumina HiSeq 2000; 8 fastq
EGAD00001001304 We used whole-genome bisulfite sequencing (WGBS) to generate unbiased DNA methylation maps of six purified B-cell subpopulations: hematopoietic progenitor cells (HPC); pre-B-II cells (preB2C); naive B cells from peripheral blood (naiBC); germinal center B cells (gcBC); memory B cells from peripheral blood (memBC) and plasma cells from bone marrow (bm-PC). WGBS was performed in 2 biological replicates from each subpopulation. Illumina HiSeq 2000; 10 bam,phenotype_file,readme_file
EGAD00001003120 We used WGS (Complete Genomics) to characterise five metastatic tumours from a BRAF mutant melanoma patient who presented intrinsic resistance. Complete Genomics;COMPLETE_GENOMICS 6
EGAD00001000763 We used targeted deep sequencing to accurately establish the allele frequencies of the mutations identified by exome sequencing Illumina MiSeq; 23 bam
EGAD00001003102 We sequenced the polyA+ fraction of the RNA of the leukocytes from 624 sardinian individuals with RNAseq. Prior to library preparation we added either ERCC ExFold RNA Spike-In. An average of 60M reads per samples with 51 bp paired-end reads were generated on a HiSeq 2000 (Illumina). Sequencing reads were then aligned using STAR-2.2.0c2 to the h37d5 reference genome supplemented with the ERCC spike-ins sequences. We further provided an exon-exon junction database that we generated from the GENCODE v14 annotation. In order to remove a contamination from a parallel experiment, we discarded any reads that mapped to the genomic regions of CBLB (chr3:105370773-105592330) and BCL11A (chr2:60672555-60784156). Filtered aligned reads (bam format) are shared. Illumina HiSeq 2000 (ILLUMINA) 624
EGAD00001001397 We sequenced 292 patients who were suffering NSCLC with Whole genome sequencing or Exome sequencing method. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 72 fastq
EGAD00001001398 We sequenced 205 patients who were suffering NSCLC with Exome sequencing method. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 147 fastq
EGAD00001001869 We report the first combined analysis of whole genome sequence, detailed clinical history, and transcriptome sequence of multiple prostate cancer metastases in a single patient (A21). Whole genome and transcriptome sequence was obtained from 9 anatomically separate metastases, and targeted DNA sequencing was performed in cancerous and noncancerous foci within the primary tumor specimen removed 5 years prior to death. Transcriptome analysis revealed increased expression of AR-regulated genes in liver metastases that harbored an AR p.L702H mutation, suggesting a dominant effect by the mutation despite being present in only 1 of an estimated 16 copies per cell. The metastases harbored several alterations to the PI3K/AKT pathway, including a clonal truncal mutation in PIK3CG and present in all metastatic sites studied. The list of truncal genomic alterations shared by all metastases included homozygous deletion of TP53, hemizygous deletion of RB1 and CHD1, and amplification of FGFR1. If the patient were treated today given this knowledge, use of second-generation androgen-directed therapies, cessation of glucocorticoid administration, and therapeutic inhibition of the PI3K/AKT pathway or FGFR1 receptor could provide personalized benefit. Three previously unreported truncal clonal missense mutations (ABCC4 p.R891L, ALDH9A1 p.W89R, and ASNA1 p.P75R) were expressed at the RNA level and assessed as druggable. The truncal status of mutations is critical for actionability, and can only be determined through analysis of multiple sites of metastasis. Our findings suggest that a large set of deeply analyzed cases could serve as powerful guide to more effective prostate cancer basic science and personalized cancer medicine clinical trials. Illumina HiSeq 2000; 7 fastq
EGAD00001002714 We recruited 100 healthy, male donors of self-reported European descent (EUB) and 100 of self-reported African descent (AFB) (Ghent, Belgium). For each participant, peripheral blood mononuclear cells (PBMCs) were isolated from whole blood on Ficoll-Paque density gradients. Monocytes were then positively selected with magnetic CD14 microbeads and exposed for 6 hours to different ligands activating TLR4 (LPS), TLR1/2 (Pam3CSK4), TLR7/8 (R848) and to a human seasonal influenza A virus (IAV). High-quality RNA was obtained from unstimulated and stimulated monocytes for 970 of the 1000 samples (200 x 5 conditions), and was sequenced on an Illumina HiSeq2000. On average, 34 million 101-bp single-end reads were obtained per sample. Illumina HiSeq 2000;ILLUMINA 970 fastq
EGAD00001000445 We recently worked-up a pulldown protocol for studying 21 genes recurrently mutated in AML (Study1770). Our manuscript is currently under revision and to address the reviewers' comments we need to validate some mutations by re-sequencing. In this add-on study we will be using PCR followed by MiSeq for this purpose. Illumina MiSeq; 9 bam
EGAD00001000603 We recently used the Agilent SureSelect platform to re-sequence a set of genes known to be mutated in human AML. The results from 10 AML DNA samples were very satisfactory, but the effort required was significant. Thus, we decided to re-sequence the same genes using the Haloplax system for target enrichment in 48 AML samples. We planned to do this using MiSeq and have data from a pilot of 3 samples. The data is promising but coverage appears pathcy so far. However, in order to get a better understanding of the data we will need deeper sequencing. We will need two lanes of HiSeq to get the same degree coverage as Sureselect. his data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 54 bam,cram
EGAD00001000390 We propose to definitively characterise the somatic genetics of triple negative breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 101 bam,cram
EGAD00001000662 We propose to definitively characterise the somatic genetics of Triple negative breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. This study will use a bespoke bait set to pulldown regions of interest found in whole genome sequencing to validate mutations found. Illumina HiSeq 2000; 46 bam
EGAD00001000621 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. This study will aim to validate the findings of the whole genome study by re-sequencing regions of interest using a bespoke pulldown bait. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina MiSeq; 18 bam
EGAD00001000263 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina HiSeq 2000; 18 bam
EGAD00001000892 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina HiSeq 2000; 40 bam
EGAD00001000891 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina HiSeq 2000; 62 bam
EGAD00001001116 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina HiSeq 2000; 190 bam
EGAD00001000826 We propose to definitively characterise the somatic genetics of Osteosarcoma cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome and transcriptome sequencing. Illumina HiSeq 2000; 10 cram
EGAD00001000899 We propose to definitively characterise the somatic genetics of Metastatic breast cancer through generation of comprehensive catalogues of somatic mutations in Metastatic breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 41 bam,cram
EGAD00001000338 We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 3 bam
EGAD00001001264 We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 223 cram
EGAD00001002740 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 164
EGAD00001000285 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 55 bam
EGAD00001001335 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000;ILLUMINA, Illumina Genome Analyzer II;ILLUMINA 28 bam,srf,cram
EGAD00001001340 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 20 cram
EGAD00001001341 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 158 cram
EGAD00001001336 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000;ILLUMINA 6 bam
EGAD00001001338 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000;ILLUMINA, Illumina Genome Analyzer II;ILLUMINA 49 bam,srf
EGAD00001001339 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 76 bam,cram
EGAD00001001337 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. 607
EGAD00001001334 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000 99
EGAD00001000785 We propose to definitively characterise the somatic genetics of a selection of rare bone cancers through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. Illumina HiSeq 2000; 33 bam,cram
EGAD00001000369 We propose to definitively characterise the somatic genetics of a number of pediatric malignant tumours including ependymoma, high grade glioma and central nervous system primitive neurectodermal tumours through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. Illumina HiSeq 2000; 3 bam
EGAD00001000350 We propose to definitively characterise the somatic genetics of a number of pediatric malignant tumours including ependymoma, high grade glioma and central nervous system primitive neurectodermal tumours through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. Illumina HiSeq 2000; 17 bam
EGAD00001001050 We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting. Illumina HiSeq 2000; 8 cram
EGAD00001001046 We propose to biopsy 20 consented BRAF mutant melanoma patients at Addenbrooke's Hospital pre-treatment with vemurafenib and also upon the development of resistant disease, with the aim of using exome sequence and SNP6 data to identify novel sequence variants and copy number alterations that can be used to validate observed resistance mechanisms in our cell line models and also to use these models to inform as to likely candidate small molecule inhibitors to overcome resistance and that could be tested in the clinical trial setting. Illumina HiSeq 2000; 33 cram
EGAD00001003400 We present targeted NGS panel data from 170 samples that were processed using the TruSightTM Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs have previously been assessed with MLPA and can therefore be considered as confirmed. Illumina MiSeq;ILLUMINA 170
EGAD00001003799 We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy. Illumina HiSeq 2500;ILLUMINA 180
EGAD00001003146 We performed whole genome sequencing of nine OC patient-derived cell lines and one normal cell line (HOSEpiC) to analyze if the cell lines harbor OC-typical genomic aberrations absent in normal cells and to relate genomic features to drug sensitivities. 10
EGAD00001001942 We performed target re-sequencing for 1.29 Mb interval of chromosome 9 (chr9:21299764–22590271, hg19). NimbleGen SeqCap EZ choice system was used as a target enrichment method (Roche Diagnostics). A DNA probe set complementary to the target region was designed by NimbleDesign. The libraries were sequenced on the Illumina MiSeq platform with 2×150-bp paired-end module (Illumina). Fastq files for 48 Japanese patients with endometriosis are deposited. Illumina MiSeq; 48
EGAD00001000396 We performed serial plasma-Seq analyses on a male who progressed from castration-sensitive to castration-resistant prostate cancer within 10 months following treatment with androgen-deprivation therapy. Illumina MiSeq; 2 fastq
EGAD00001000364 We performed low coverage whole genome sequencing of plasma DNA from prostate cancer patients to establish copy number profiles on both a genome-wide and a gene-specific level. The data include plasma samples from prostate cacner patients (n=13), non-malignant controls (males, n=10 and females, n=9), plasma samples from pregnancies with aneuploid and euploid fetuses (n=4). Furthermore, we sequenced different tumor samples (n=6) of one patients and a serial dilution of HT29 in a background of normal DNA (n=9). Illumina MiSeq; 50 fastq
EGAD00001002274 We performed bulk exome-seq on a primary GBM and a blood sample from SF10360 Illumina HiSeq 2500;ILLUMINA 1 fastq
EGAD00001002273 We performed bulk exome-seq on a primary GBM and a blood sample from SF10345 Illumina HiSeq 2500;ILLUMINA 1 fastq
EGAD00001002275 We performed bulk exome-seq on a primary GBM and a blood sample from SF10282 Illumina HiSeq 2500;ILLUMINA 1 fastq
EGAD00001000422 We perform whole exome sequencing on samples from a large IBD pedigree. The selected samples are from more distantly related family members (healthy and with IBD) and a set of matched population (Ashkenazy Jewish ancestry) samples. Illumina HiSeq 2000; 86 bam
EGAD00001001424 We obtained paired longitudinal specimens from a total of 38 glioblastoma (GBM) patients (34 primary and 4 secondary GBM patients). Treatment-naive initial tumors were available for 35 cases; for the other 3 cases, we used the first available recurrent tumors in lieu of initial tumors. Tumor specimens were subjected to whole-exome sequencing (27 of 38 cases, with the matched normal/blood for 22 of the 27 cases) and transcriptome sequencing (30 of 38 cases). Illumina HiSeq 2000;, Illumina HiSeq 2500; 141 bam
EGAD00001001038 We mapped the data to the UCSC human reference genome build 37 using BWA 0.5.9-r16. We first mapped each read pair separately using bwa aln. Then we used bwa sampe to map the paired reads together to a BAM9 file. The BAM file was then sorted by genomic position and indexed using PicardTools-1.32 SortSam. To prevent PCR artifacts from influencing the downstream analysis of our data, we used Picard to mark the duplicate reads, which were ignored in downstream analysis. We used GATK IndelRealigner on our data around known indels (from 1KG Pilot). The IndelRealigner creates all possible read alignments using the source and computes the likelihood of the data containing the indel based on the read pileup. Whenever the maximum likelihood contains an indel, the reads are realigned accordingly. Each base is associated with a phred-scaled base quality score. Calibration of Phred scores is crucial as they are used in some of the downstream analysis models. We used GATK to recalibrate the base qualities with respect to (i) the base cycle, (ii) original quality score, and (iii) dinucleotide context. To minimize issues stemming from mapping problems around indels, we decided to undergo a second round of indel realignment using the GATK IndelRealigner by family rather than by individual. For this second round, we considered two sources of possible indels: 1KG Phase 1 indels and indels aligned by BWA in the GoNL data. 769 bam
EGAD00010000766 We have established a mechanism for the collection of postal DNA samples from consenting National Joint Registry for England and Wales (NJR) patients and have carried out genotyping genome-wide in 903 patients with the condition Developmental Dysplasia of the Hip (DDH) on the Illumina CoreExome array 903
EGAD00001000599 We have collected material from a patient who had BrafV600E mutant melanoma that was treated with PLX4032. We have germline DNA from the patient and DNA and RNA from distinct lesions before and after treatment with PLX4032. We have transcriptome sequenced these samples to obtain a snap shot of the mechanisms of resistance that are operative. Illumina HiSeq 2000; 6 bam
EGAD00001002269 We expressed PDGFRAmut, wild-type PDGFRA and a GFP control from lentivirus, in two primary GBM patient-derived cell lines that we had cultured as monolayers. Illumina HiSeq 4000; 1 fastq
EGAD00001002143 We expanded our previous collection of longitudinal GBM patients (EGAS00001001041) by recruiting 21 additional patients. Tumor specimens were subjected to whole-exome sequencing (16 of 21 cases, with the matched normal/blood) and transcriptome sequencing (16 of 21 cases). Illumina HiSeq 2500; 86 fastq
EGAD00001001091 We established and validated a sequence capture based NGS testing approach for PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing of PKD1 variants challenging. In the publication accompaying this dataset (An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease, Eisenberger et.al., PLoS one), we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. This dataset contains the raw PKD1 reads of all patients from the publication. Illumina HiSeq 1500; 55 fastq
EGAD00001001313 We enriched a panel of cancer associated genes using the Custom Sure Select Target Enrichment Kit. Identified mutations were validated with deep sequencing in order to assess mutated allele frequencies more accurately. Illumina MiSeq; 10 fastq
EGAD00001000372 We conducted whole genome sequencing and DNA SNP array of 12 uveal melanoma genomes and their matched DNA from blood. We also conducted RNA-seq of the 12 tumour samples. Illumina HiSeq 2000; 24 bam
EGAD00001003223 we collected tumor samples and adjacent nomal mucosae from 5 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing. Illumina HiSeq 2000;ILLUMINA 10
EGAD00001003304 We collected tumor samples and adjacent nomal mucosae from 46 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing. Complete Genomics;COMPLETE_GENOMICS 38
EGAD00001003224 we collected tumor samples and adjacent nomal mucosae from 17 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing. Illumina HiSeq 2000;ILLUMINA 34
EGAD00001003111 We collected fresh tissue from an untreated GBM directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine after selection of CD11b+ cells using magnetic beads. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003110 We collected fresh tissue from an untreated GBM directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine after selection of CD11b+ cells using magnetic beads. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003107 We collected fresh tissue from an untreated GBM directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine after selection of CD11b+ cells using magnetic beads. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003108 We collected fresh tissue from an untreated GBM directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine after selection of CD11b+ cells using magnetic beads. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003109 We collected fresh tissue from an untreated GBM directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine after selection of CD11b+ cells using magnetic beads. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003113 We collected fresh tissue from an untreated GBM (SF10679) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001003112 We collected fresh tissue from an untreated GBM (SF10592) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001002272 We collected fresh tissue from an untreated GBM (SF10360) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500;ILLUMINA 1 fastq
EGAD00001002271 We collected fresh tissue from an untreated GBM (SF10345) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500;ILLUMINA 1 fastq
EGAD00001002270 We collected fresh tissue from an untreated GBM (SF10282) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500; 1 fastq
EGAD00001003114 We collected fresh tissue from an untreated GBM (SF10281) directly from the operating room and subjected the biopsy to single-cell RNA-seq with the fluidigm C1 machine, resulting in sequencing libraries from 96 individual cells. Illumina HiSeq 2500;ILLUMINA 1
EGAD00001000407 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 327 bam
EGAD00001000412 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 477 bam,cram
EGAD00001000647 We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls. Illumina HiSeq 2000; 110 bam,cram
EGAD00001000786 We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient. Illumina MiSeq; 1 cram
EGAD00001000979 We are developing a protocol to differentiate mouse and human induced pluripotent stem (IPS) and embryonic stem (ES) cells towards the haematopoietic pathway to generate erythrocytes in vitro. This system has many applications such as the study of the role of specific genes and human polymorphisms in infectious diseases such as malaria, as well as haematological diseases such as myelodysplastic syndrome. The nature of the in vitro differentiation process means that a heterogeneous population of cells is generated. In order to understand the types of cells produced with our protocol, we have performed a single cell analysis, which has the power to reveal the different populations of cells and their characteristics. For this, a cDNA library has been made that needs to be sequenced to obtain the gene expression profiles of the different cells. With this information we will be able to assess the quality of the differentiation protocol and improve it in order to produce better cells for the downstream applications. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 192 cram
EGAD00001000819 We are aiming to investigate repair of a double strand break (DSB) within the genome in the presence and absence of the BLOOM protein. Zinc Finger Nucleases introduce DSBs at specified loci within the genome. Using sequencing we will assess the size of the deletion following repair. Protocol 1. Transfect normal and BLOOM deficient human iPS cells with ZFNs, using AMXA 2. Harvest cells after 5 days 3. Perform column extraction of DNA 4. PCR-amplify the ZFN region 5. Sequence and analyse repair of the DSB This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 6 bam
EGAD00001003140 We analyzed the spectrum and clinical significance of MYC and BCL2 mutations in 347 DLBCL cases from population-based cohort of BC, Canada. Illumina MiSeq;ILLUMINA 347
EGAD00001000408 We aim to whole-exome sequence DNA samples from 75 individuals with severe forms of Inflammatory Bowel Disease and related autoimmune diseases to identify the rare, highly penetrant, variants that we believe underlie these phenotypes. Case samples will be obtained from both new and existing (UK IBD Genetics Consortium) collaborators to ensure only the most extreme cases are sequenced. Illumina HiSeq 2000; 4 bam
EGAD00001003245 We aim to sequence the small RNAs of 22 human melanoma cell lines in biological triplicate in order to define the microRNAs expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistance This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500;ILLUMINA 66
EGAD00001003244 We aim to sequence the mRNA transcriptome of 22 human melanoma cell lines in biological triplicate in order to define the gene expression profile of each cell line. The data will be correlated to the mutation status and the sensitivity to a panel of drugs in order to identify genes whose deregulation is associated to drug resistance This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000;ILLUMINA 66
EGAD00001000770 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 32 cram
EGAD00001000771 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 80 bam,cram
EGAD00001000739 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 57 cram
EGAD00001000772 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 77 cram
EGAD00001000773 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 90 cram
EGAD00001000769 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 38 cram
EGAD00001003212 We aim to provide a powerful reference set for genome-wide association studies (GWAS) in African populations. Our pilot study to sequence 100 individuals each from Fula, Jola, Mandinka and Wollof from the Gambia to low coverage has been completed - this first part of the main effort will make available low coverage WGS data for 400 individuals from multiple ethnic groups in Burkina Faso, Cameroon, Ghana and Tanzania. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ HiSeq X Ten;ILLUMINA 74
EGAD00010000853 VeraCode GoldenGate GT Assay technology 147
EGAD00001001240 VCF files of somatic variants from tumor-normal pairs of Asian lung cancer patients 30 vcf
EGAD00001003361 VCF files containing mitochondrial variant calls using MToolbox 432
EGAD00001000041 Various Platelet Disorders Illumina Genome Analyzer II 7 bam
EGAD00001000005 Various Cancer Fusion Gene Sequencing Illumina Genome Analyzer II;, Illumina Genome Analyzer II 14 bam,srf
EGAD00001002277 Variation in the Glucose Transporter gene SLC2A2 is associated with glycaemic response to metformin 1 phenotype_file
EGAD00001003186 Variants on the Y chromosome for 62 danish males in VCF format from the GenomeDenmark Phase 2 cohort. Variants were called using reference based approaches such as the haplotype-caller module from GATK and using alignment of denovo assemblies to the reference using ASMvar. 68
EGAD00001001941 Variants derived from mapped whole transcriptome RNA-Seq data from 476 human samples of early stage urothelial carcinoma. 476 vcf
EGAD00001002649 Variants called from RNA-seq data of meningioma tumors. 25 vcf
EGAD00001003188 Variants and genotypes called in 50 danish parent-offspring trios from 80x Illumina sequencing data using BayesTyper. Data was produced using different insert size libraries of the sizes 180, 500, 800, 2000, 5000, 10000 and 20000 bp. The sample IDs for the fathers and mothers are TrioID-01 and TrioID-02, respectively, and the IDs for the children are TrioID-0x, where x is a number between 3 and 7 150
EGAD00001003164 Variant call set (vcf) for three (primary and two recurrent) tumors 3
EGAD00001000973 Van Hippel-Lindau syndrome multi-region exome sequencing of two patients Illumina HiSeq 2000; 21 bam
EGAD00001000949 Validations of variants identified by exome sequencing in sequential samples derived after treatment cycle with AZA. Illumina HiSeq 2000; 170 cram
EGAD00001000988 Validation/deeper sequencing for metastatic prostate cancer samples Illumina HiSeq 2500; 94 cram
EGAD00001000989 Validation/deeper sequencing for metastatic prostate cancer samples Illumina HiSeq 2500; 26 cram
EGAD00001003454 Validation of HLA variation of 8 individuals from the GenomeDenmark Phase 2 study. Validation is performed Sanger sequencing of selected amplicons (5-10 amplicons per sample). AB 3730xL Genetic Analyzer;CAPILLARY 8
EGAD00010000468 Uveal melanoma matched Tumour and blood samples Illumina HumanOmni2.5 24
EGAD00001002005 Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in two individuals from two unrelated Ashkenazi Jewish (AJ) families. Both patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. 2 vcf
EGAD00001003092 Using sequencing and gene expression analyses, we identified a subgroup of HCA characterized by fusion of the INHBE and GLI1 genes and activation of sonic hedgehog pathway. Molecular subtypes of HCAs associated with different patients’ risk factors for HCA, disease progression, and pathology features of tumors. This classification system might be used to select treatment strategies for patients with HCA. Related Publication: Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation Nault, Jean-CharlesLaurent, Christophe et al. Gastroenterology , Volume 152 , Issue 4 , 880 - 894.e6 http://dx.doi.org/10.1053/j.gastro.2016.11.042 Illumina HiSeq 2000;ILLUMINA 21
EGAD00001001387 Using high-throughput sequencing technologies and analytical tools, we conduct an exome sequencing study that will help understand the population genetics of a Croatian island isolate, in a sample of 200 subjects from the Adriatic island of Vis who were selected to reflect islanders with at least four known ancestors in grandparental line who are original islanders. Illumina HiSeq 2000; 193 bam
EGAD00001001960 upcoming publication Illumina HiSeq 2000; 171 bam
EGAD00001000109 Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density Illumina HiSeq 2000 29 bam
EGAD00010000874 Understanding Society Sequenom genotypes Sequenom 4,295
EGAD00010000918 Understanding Society GWAS, samples that passed quality control, imputed to UK10K + 1000 Genomes combined reference panel Illumina HumanCoreExome-12v1-0 chip, UK10K + 1000 Genomes combined reference panel imputed 9,944
EGAD00010000891 Understanding Society GWAS, samples that passed quality control Illumina HumanCoreExome-12v1-0 9,944
EGAD00010000890 Understanding Society GWAS, all samples Illumina HumanCoreExome-12v1-0 10,463
EGAD00001003204 Understanding how cells sense and respond to their environment, and how these responses are modulated by genetic variation, are fundamental biological problems, particularly for understanding how pathogenic organisms invade and manipulate the cells of the human immune system. Macrophages recognize and respond to many important human pathogens including HIV-1, Mycobacteria tuberculosis and Salmonella. This study will focus on the cellular response of human macrophages to Salmonella infection and how this response is modulated by the genetic bacground of the individual as well as additional pro-inflammatory stimulus (interferon-gamma priming). We will acquire 100 human induced pluripotent stem cell lines from the HipSci project, differentiate the cells in vitro into macrophages and expose them to four environmental conditions: (i) no stimulation, (ii) interferon-gamma (18h), (iii) Salmonella typhimurium SL1344 (5h), (iv) interferon-gamma (18h) + Salmonella (5h).Subsequently, we will isolate RNA from the samples for sequencing. Illumina HiSeq 2500;ILLUMINA 236
EGAD00001001262 Unaligned bam of 31 samples derived from primary tumor Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 31 bam
EGAD00001001263 Unaligned bam of 31 samples derived from blood Illumina Genome Analyzer IIx; 31 bam
EGAD00001001940 Un-mapped whole transcriptome RNA-Seq data from 476 human samples of early stage urothelial carcinoma. Illumina HiSeq 2000; 476 bam
EGAD00001003590 Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance - WXS unaligned reads Illumina HiSeq 2500;ILLUMINA 27
EGAD00001003589 Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance - WXS mapped reads 27
EGAD00001003100 UKBEC 1st release of Exome data for 65 neuropathologically confirmed control individuals of European descent. Illumina HiSeq 2000;ILLUMINA 65
EGAD00001000805 UK10K_RARE_THYWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000420 UK10K_RARE_THYROID REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124 vcf
EGAD00001000329 UK10K_RARE_THYROID REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 113 vcf
EGAD00001000208 UK10K_RARE_THYROID REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 65 vcf
EGAD00001000187 UK10K_RARE_THYROID REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 65 vcf
EGAD00001000152 UK10K_RARE_THYROID REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 27 vcf
EGAD00001000757 UK10K_RARE_SIR UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000419 UK10K_RARE_SIR REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 121 vcf
EGAD00001000334 UK10K_RARE_SIR REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 111 vcf
EGAD00001000218 UK10K_RARE_SIR REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 81 vcf
EGAD00001000188 UK10K_RARE_SIR REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 63 vcf
EGAD00001000153 UK10K_RARE_SIR REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 38 vcf
EGAD00001000754 UK10K_RARE_NMWG REL-2013-09-09 Illumina HiSeq 2000; 5 tabix,vcf
EGAD00001000804 UK10K_RARE_NMWG REL-2013-03-06 Illumina HiSeq 2000; 1 tabix,vcf
EGAD00001000418 UK10K_RARE_NEUROMUSCULAR REL-2013-04-20 Illumina HiSeq 2000; 140 vcf
EGAD00001000298 UK10K_RARE_NEUROMUSCULAR REL-2012-11-27 Illumina HiSeq 2000; 130 vcf
EGAD00001000219 UK10K_RARE_NEUROMUSCULAR REL-2012-07-05 Illumina HiSeq 2000; 117 vcf
EGAD00001000189 UK10K_RARE_NEUROMUSCULAR REL-2012-02-22 Illumina HiSeq 2000; 86 vcf
EGAD00001000180 UK10K_RARE_NEUROMUSCULAR REL-2012-01-13 Illumina HiSeq 2000; 47 vcf
EGAD00001000417 UK10K_RARE_HYPERCHOL REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 125 vcf
EGAD00001000295 UK10K_RARE_HYPERCHOL REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 120 vcf
EGAD00001000207 UK10K_RARE_HYPERCHOL REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 88 vcf
EGAD00001000186 UK10K_RARE_HYPERCHOL REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 71 vcf
EGAD00001000167 UK10K_RARE_HYPERCHOL REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 48 vcf
EGAD00001000753 UK10K_RARE_FINDWG REL-2013-09-09 Illumina HiSeq 2000; 4 tabix,vcf
EGAD00001000803 UK10K_RARE_FINDWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000750 UK10K_RARE_FIND REL-2013-10-31 variant calling Illumina HiSeq 2000; 1,151 tabix,vcf
EGAD00001000416 UK10K_RARE_FIND REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124 vcf
EGAD00001000297 UK10K_RARE_FIND REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124 vcf
EGAD00001000209 UK10K_RARE_FIND REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 121 vcf
EGAD00001000190 UK10K_RARE_FIND REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 90 vcf
EGAD00001000171 UK10K_RARE_FIND REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 44 vcf
EGAD00001000415 UK10K_RARE_COLOBOMA REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 123 vcf
EGAD00001000307 UK10K_RARE_COLOBOMA REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 117 vcf
EGAD00001000206 UK10K_RARE_COLOBOMA REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 123 vcf
EGAD00001000185 UK10K_RARE_COLOBOMA REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 98 vcf
EGAD00001000179 UK10K_RARE_COLOBOMA REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 75 vcf
EGAD00001000752 UK10K_RARE_CILWG REL-2013-09-09 Illumina HiSeq 2000; 4 tabix,vcf
EGAD00001000802 UK10K_RARE_CILWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000414 UK10K_RARE_CILIOPATHIES REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 122 vcf
EGAD00001000296 UK10K_RARE_CILIOPATHIES REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 108 vcf
EGAD00001000217 UK10K_RARE_CILIOPATHIES REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 150 vcf
EGAD00001000191 UK10K_RARE_CILIOPATHIES REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 128 vcf
EGAD00001000168 UK10K_RARE_CILIOPATHIES REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 50 vcf
EGAD00001000413 UK10K_RARE_CHD REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 125 vcf
EGAD00001000294 UK10K_RARE_CHD REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124 vcf
EGAD00001000210 UK10K_RARE_CHD REL-2012-07-05 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 124 vcf
EGAD00001000192 UK10K_RARE_CHD REL-2012-02-22 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 46 vcf
EGAD00001000178 UK10K_RARE_CHD REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 46 vcf
EGAD00001000429 UK10K_OBESITY_TWINSUK REL-2013-04-20 Illumina HiSeq 2000; 68 vcf
EGAD00001000756 UK10K_OBESITY_SCOOP UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 1 tabix,vcf
EGAD00001000432 UK10K_OBESITY_SCOOP REL-2013-04-20 Illumina HiSeq 2000; 985 vcf
EGAD00001000336 UK10K_OBESITY_SCOOP REL-2012-11-27 Illumina HiSeq 2000; 784 vcf
EGAD00001000193 UK10K_OBESITY_SCOOP REL-2012-02-22 Illumina HiSeq 2000; 573 vcf
EGAD00001000181 UK10K_OBESITY_SCOOP REL-2012-01-13 Illumina HiSeq 2000; 212 vcf
EGAD00001000300 UK10K_OBESITY_GS_REL_2012_07_05 Illumina HiSeq 2000; 430 bam
EGAD00001000755 UK10K_OBESITY_GS UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 5 tabix,vcf
EGAD00001000431 UK10K_OBESITY_GS REL-2013-04-20 Illumina HiSeq 2000; 428 vcf
EGAD00001000309 UK10K_OBESITY_GS REL-2012-11-27 Illumina HiSeq 2000; 424 vcf
EGAD00001000430 UK10K_NEURO_UKSCZ REL-2013-04-20 Illumina HiSeq 2000; 554 vcf
EGAD00001000335 UK10K_NEURO_UKSCZ REL-2012-11-27 Illumina HiSeq 2000; 527 vcf
EGAD00001000256 UK10K_NEURO_UKSCZ REL-2012-07-05 Illumina HiSeq 2000; 595 vcf
EGAD00001000182 UK10K_NEURO_UKSCZ REL-2012-01-13 Illumina HiSeq 2000; 95 vcf
EGAD00001000443 UK10K_NEURO_MUIR REL-2013-04-20 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 175 vcf
EGAD00001000322 UK10K_NEURO_MUIR REL-2012-11-27 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 166 vcf
EGAD00001000170 UK10K_NEURO_MUIR REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 167 vcf
EGAD00001000052 UK10K_NEURO_MUIR REL-2011-01-28 Illumina Genome Analyzer II; 104 vcf,bam,bam
EGAD00001000442 UK10K_NEURO_IOP_COLLIER REL-2013-04-20 Illumina HiSeq 2000; 172 vcf
EGAD00001000321 UK10K_NEURO_IOP_COLLIER REL-2012-11-27 Illumina HiSeq 2000; 158 vcf
EGAD00001000441 UK10K_NEURO_IMGSAC REL-2013-04-20 Illumina HiSeq 2000; 113 vcf
EGAD00001000320 UK10K_NEURO_IMGSAC REL-2012-11-27 Illumina HiSeq 2000; 111 vcf
EGAD00001000440 UK10K_NEURO_GURLING REL-2013-04-20 Illumina HiSeq 2000;ILLUMINA 46 bam,vcf
EGAD00001000319 UK10K_NEURO_GURLING REL-2012-11-27 Illumina HiSeq 2000; 48 vcf
EGAD00001000240 UK10K_NEURO_FSZ_REL_2012_07_05 Illumina HiSeq 2000; 120 vcf
EGAD00001000184 UK10K_NEURO_FSZ_REL_2012_01_13 Illumina HiSeq 2000; 120 vcf
EGAD00001000439 UK10K_NEURO_FSZNK REL-2013-04-20 Illumina HiSeq 2000; 285 vcf
EGAD00001000332 UK10K_NEURO_FSZNK REL-2012-11-27 Illumina HiSeq 2000; 258 vcf
EGAD00001000183 UK10K_NEURO_FSZNK REL-2012-01-13 Illumina HiSeq 2000; 273 vcf
EGAD00001000615 UK10K_NEURO_FSZ REL-2013-04-20 Illumina HiSeq 2000; 128 vcf
EGAD00001000318 UK10K_NEURO_FSZ REL-2012-11-27 Illumina HiSeq 2000; 119 vcf
EGAD00001000438 UK10K_NEURO_EDINBURGH REL-2013-04-20 Illumina HiSeq 2000; 234 vcf
EGAD00001000317 UK10K_NEURO_EDINBURGH REL-2012-11-27 Illumina HiSeq 2000; 214 vcf
EGAD00001000437 UK10K_NEURO_ASD_TAMPERE REL-2013-04-20 Illumina HiSeq 2000; 55 vcf
EGAD00001000314 UK10K_NEURO_ASD_TAMPERE REL-2012-11-27 Illumina HiSeq 2000; 48 vcf
EGAD00001000614 UK10K_NEURO_ASD_SKUSE REL-2013-04-20 Illumina HiSeq 2000; 341 vcf
EGAD00001000313 UK10K_NEURO_ASD_SKUSE REL-2012-11-27 Illumina HiSeq 2000; 305 vcf
EGAD00001000613 UK10K_NEURO_ASD_MGAS REL-2013-04-20 Illumina HiSeq 2000; 97 vcf
EGAD00001000312 UK10K_NEURO_ASD_MGAS REL-2012-11-27 Illumina HiSeq 2000; 96 vcf
EGAD00001000436 UK10K_NEURO_ASD_GALLAGHER REL-2013-04-20 Illumina HiSeq 2000; 77 vcf
EGAD00001000316 UK10K_NEURO_ASD_GALLAGHER REL-2012-11-27 Illumina HiSeq 2000; 75 vcf
EGAD00001000435 UK10K_NEURO_ASD_FI REL-2013-04-20 Illumina HiSeq 2000; 84 vcf
EGAD00001000311 UK10K_NEURO_ASD_FI REL-2012-11-27 Illumina HiSeq 2000; 84 vcf
EGAD00001000173 UK10K_NEURO_ASD_FI REL-2012-01-13 Illumina HiSeq 2000; 85 vcf
EGAD00001000434 UK10K_NEURO_ASD_BIONED REL-2013-04-20 Illumina HiSeq 2000; 77 vcf
EGAD00001000310 UK10K_NEURO_ASD_BIONED REL-2012-11-27 Illumina HiSeq 2000; 76 vcf,bam
EGAD00001000433 UK10K_NEURO_ABERDEEN REL-2013-04-20 Illumina HiSeq 2000; 392 vcf
EGAD00001000315 UK10K_NEURO_ABERDEEN REL-2012-11-27 Illumina HiSeq 2000; 313 vcf
EGAD00001000790 UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data 1,854 phenotype_file,readme_file
EGAD00001000741 UK10K_COHORT_TWINSUK REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing Illumina Genome Analyzer II;, Illumina HiSeq 2000; 1,854
EGAD00001000194 UK10K_COHORT_TWINS REL-2011-12-01 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 1,713 vcf
EGAD00001000776 UK10K_COHORT_IMPUTATION REL-2012-06-02: imputation reference panel (20140306); Merged UK10K+1000Genomes Phase 3 imputation reference panel added (20160420) Illumina HiSeq 2000; 3,781 other,readme_file,bam
EGAD00001000789 UK10K_COHORT_ALSPAC REL-2012-06-02: Phenotype data 1,927 phenotype_file,readme_file
EGAD00001000740 UK10K_COHORT_ALSPAC REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing Illumina HiSeq 2000 (ILLUMINA) 2,320
EGAD00001000151 UK10K OBESITY REL-2011-07-14 Illumina HiSeq 2000; 88 vcf
EGAD00010001246 UK TGCT controls samples using theInfinium OncoArray-500K BeadChip Infinium OncoArray-500K BeadChip 7,422
EGAD00010001243 UK TGCT control samples using the Infinium 1.2M array Illumina Infinium 1.2M array 4,946
EGAD00010001247 UK TGCT case samples using theInfinium OncoArray-500K BeadChip Infinium OncoArray-500K BeadChip 3,206
EGAD00010000754 UK glioma case germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 596
EGAD00010001226 UK Biobank directly genotyped dataset Affymetrix 488,377
EGAD00010001225 UK Biobank autosomal imputation dataset Affymetrix 487,409
EGAD00001001382 TwinsUK whole exome sequencing using NimbleGen SeqCap EZ 248 bam,bai
EGAD00001001383 TwinsUK whole exome sequencing using NimbleGen 2.1M SeqCap 242 bam,bai
EGAD00010000148 tumour samples using Affymetrix Genome-Wide SNP6.0 arrays Affymetrix_GenomeWide_SNP6.34 104
EGAD00001001690 Tumor-Normal paired samples of PTC Illumina HiSeq 2000; 182 fastq
EGAD00010001064 tumor-based gene expression from breast cancer cases IlluminaHuman HT12 173
EGAD00010000678 Tumor sample SNP arrays Illumina SNP array 11
EGAD00001000139 Tumor sample of a serious ovarian carcinoma Complete Genomics 1 CompleteGenomics_native
EGAD00010000680 Tumor sample CGH arrays Agilent CGH array 4
EGAD00001002109 TSACP TruSeq Amplicon Panel dataset for the TraIT cell line use case 5 other,bam
EGAD00001000141 Triple Negative Breast Cancer Whole Genomes Illumina Genome Analyzer II;, Illumina HiSeq 2000; 243
EGAD00001000063 Triple Negative Breast Cancer sequencing Illumina Genome Analyzer II 6 bam
EGAD00001000640 Transcriptome studies in patients with rare genetic diseases can potentially aid in the interpretation of likely causal genetic variation through identification of altered transcript abundance and/or structure. RNA-Seq is the most sensitive assay for both investigating transcript structure and abundance The primary aim of this pilot project is to investigate to what degree integrating exome-Seq and RNA-Seq data on the same individual can accelerate the identification of causal alleles for rare genetic diseases. There are two main strands to this: (i) identifying which variants discovered in exome-seq appear to be having a functional impact on transcripts, and (ii) identifying transcript outliers, especially among known causal genes, that may not necessarily have a causal variant identified from exome sequencing. The latter may identify the presence of causal variants that lie far from coding regions (e.g. the formation of cryptic splice sites deep within introns, or loss of long range regulatory elements), which can be confirmed with further targeted genetic assays. Just over 50% of all disease-causing variants recorded in the Human Gene Mutation Database (HGMD) affect transcript structure and abundance (e.g. nonsense SNVs, essential splice site SNVs, frameshifting indels, CNVs). This pilot project will study RNA from lymphoblastoid cell-lines from 12 patients with primordial dwarfism syndromes, for 10 of these samples we have previously generate exome data as part of our collaboration with the group of Prof Andrew Jackson. The two remaining samples are positive controls where the causal mutation is known, and is known to affect transcript structure and/or abundance. Primordial dwarfism is a prime candidate for these RNA-seq studies because all known causal mutations to date have key roles in DNA replication and thus, unsurprisingly, the products of the causal genes are typically ubiquitously expressed. Each RNA will be sequenced, with two technical replicates (independent RT-PCR and libraries) per sample, and each replicate run in 1/2 of a HiSeq lane using 100bp paired reads. Samples preparation was as follows :The cells were grown to confluency, then pellets frozen at -80. RNA samples were prepared using the Qiagen RNeasy kit, then nanodropped and analyzed using the bioanalyzer to determine concentration and purity. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 24 bam
EGAD00001001459 Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer. This dataset contains all the data available for this study on 2015-08-05. Illumina HiSeq 2000; 76 cram
EGAD00001003320 Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer This dataset contains all the data available for this study on 2017-05-04. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 106
EGAD00001000627 Transcriptome sequencing data of tumor and 10 matched normal samples of the EGAS00001000495 project Illumina HiSeq 2000; 68 fastq
EGAD00001003690 Transcriptome sequence data from a metastatic breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 1
EGAD00001003344 Transcriptome profiling of 25 prostate tumor samples by RNA-Seq Illumina HiSeq 2000;ILLUMINA 25
EGAD00001003255 Transcriptome of anaplastic meingiomas Illumina HiSeq 2500;ILLUMINA 34
EGAD00001002163 Transcriptome from EGAS00001001846 Illumina HiSeq 2500; 1 fastq
EGAD00001002161 Transcriptome from EGAS00001001845 Illumina HiSeq 2500; 1 fastq
EGAD00010001280 Transcriptome array dataset Affymetrix HG_U133_+2 25
EGAD00001003119 TP53 targeted panel aligned reads consisting of BAM paired end reads from ovarian cancer tumor samples Data Access Committee Illumina MiSeq;ILLUMINA 76
EGAD00001003241 Toxoplasmosis is a zoonotic disease caused by a ubiquitous protozoan parasite called Toxoplasma gondii, which can infect all mammal and bird species throughout the world. seroprevalence varies widely between countries. Studies have estimated that between 7-34% of people in the UK have been infected with T. gondii. The vast majority of these people will not have noticed any symptoms, however about 10% of people develop a mild to moderate self limiting flu-like illness. Following the acute active stage of the infection the parasite persists in the body in the form of cysts, particularly in heart and skeletal muscle and nervous system tissues, for many years, and usually for life. In immunocompetent persons these cysts do not pose a health risk. We will use RNA-seq to quantify the transcriptional response of macrophages to T gondii infection. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000;ILLUMINA 18
EGAD00001003143 Total stranded TruSeq RNA sequencing by Illumina of six tumor samples from six cases of pediatric Pilocytic astrocytoma. The data is published in the following paper: Tomic TT, Olausson J, Wilzen A, Sabel M, Truve K, Sjogren H, Dosa S, Tisell M, Lannering B, Enlund F, Martinsson T, Aman P, Abel F. A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma. PLoS One. 2017 Apr 27;12(4):e0175638. Illumina HiScanSQ;ILLUMINA 6
EGAD00001002248 Total of 49 tumor specimens from 20 patients were subjected for whole-exome and/or whole-transcriptome sequencing including matched normal/blood. Tumor samples are acquired based on 4 categories; 1) locally adjacent tumors, 2) multifocal/multicentric tumors, 3) 5-ALA (+/-) tumors and 4) Longitudinal tumors. Illumina HiSeq 2500; 104
EGAD00001002187 To identify transcriptome profile in this unique subset of gastric cancers, RNA-seq analyses were performed using frozen cancer tissue. Adjacent normal tissue of the same patients were used in differently expressed gene selection and fusion gene prediction. Illumina HiSeq 2500; 138 bam
EGAD00001001984 To identify recurrent somatic alterations in this unique subset of gastric cancers, whole exome and SNP6 analyses were performed using frozen cancer tissue. The somatic mutation analyses were also performed using blood of the same patients. Illumina HiSeq 2500; 160 bam
EGAD00001001363 To generate an RNA-Seq dataset for organoids apically stimulated with Salmonella Typhimurium. These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 12 cram
EGAD00001001209 To examined the reproducibility of nucleotide variant calls in replicate sequencing experiments of the same genomic DNA, we performed targeted sequencing of all known human protein kinase genes (kinome) (~3.3 Mb) using the SOLiD v4 platform. This data set contains 17 breast cancer samples that were sequenced in duplicate (n=14) or triplicate (n=3), in order to assess concordance of all calls and single nucleotide variant (SNV) calls. AB SOLiD 4 System; 37 SOLiD_native_csfasta,SOLiD_native_qual
EGAD00001000848 To evaluate the presence of mutations in frequently mutated genes in MPN by performing targeted resequencing of a selected gene panel comprising of 111 genes across 40 samples with MPN. Illumina MiSeq; 48 cram
EGAD00001000070 TMD_AMLK Exome Study Illumina HiSeq 2000, Illumina HiSeq 2000; 50 bam,cram
EGAD00010001179 Tissue samples using Illumina HumanOmniExpress-FFPE-12 v1.0 BeadChip Illumina HumanOmniExpress-FFPE-12 v1.0 BeadChip 22
EGAD00001003438 Three files of patients 20, 23 and 25 with WGS done on Illumina HiSeq 2000. For research purpose and authorised user only. Illumina HiSeq 2000;ILLUMINA 3
EGAD00001003439 Three files of patients 10, 11 and 13 with WGS done on Illumina HiSeq X Ten. For research purpose and authorised user only. HiSeq X Ten;ILLUMINA 3
EGAD00001000623 This VCF contains the full sequence data post QC. This consists of 41,911 individuals. All polymorphic sites are present in this VCF. 41,911 vcf
EGAD00001001928 This study will analyse the guide sequence which were used for making mutations in the Cas9-expressing cells. We used GeCKO v2 library which were released by Feng Zhang, 2014. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 61 cram
EGAD00001000266 This Study uses a focused bespoke bait pull down library method to target findings of Osteosarcoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples. Illumina HiSeq 2000; 110 bam
EGAD00001000273 This Study uses a focused bespoke bait pull down library method to target findings of Meningioma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples. Illumina HiSeq 2000; 147 bam
EGAD00001000267 This Study uses a focused bespoke bait pull down library method to target findings of Chordoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples. Illumina HiSeq 2000; 46 bam
EGAD00001000265 This Study uses a focused bespoke bait pull down library method to target findings of Chondrosarcoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples. Illumina HiSeq 2000;ILLUMINA 190
EGAD00001001450 This study is to ascertain whether it is feasible to extract single cell from a tumour, perform amplification, generate a library and sequence a targeted pulldown. Illumina HiSeq 2000; 3 bam
EGAD00001001986 This study is meant to gain further knowledge in haematological cancers. Patients samples (mainly DNAs or PCR products) from haematolocical cancer patients will be sequenced, and the outputs will be correlated to their diagnosis and/or prognosis; the findings may also add more insight into the understanding of biology in this type of tumour. We will be sequencing Primary Testicular Lymphomas (PTL) to identify genetic drivers of this rare cancer Illumina HiSeq 2500; 7 cram
EGAD00001002225 This study involves targeted sequencing of samples from myeloid malignancies at different timepoints to assess clonal evolution of malignancy a. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 147 cram
EGAD00001002234 This study involves mutagenizing C32, a melanoma cell line, with ENU to identify those mutations which engender resistance to a targeted treatment. Illumina HiSeq 2000; 84 cram
EGAD00001003239 This study involves mutagenizing C32, a melanoma cell line, with ENU to identify those mutations which engender resistance to a targeted treatment. Illumina HiSeq 2000;ILLUMINA 80
EGAD00001002213 This study involves exome sequencing of blood/bone marrow DNA from patients with myeloid malignancies. Blood DNA samples have been taken from patients at different timepoints of disease phenotype. We hope to elucidate mechanisms of clonal evolution in these patients. Illumina HiSeq 2000; 32 cram
EGAD00001000980 This study involves a forward genetic screen to identify common insertion sites in drug resistant clones. We will be utilising piggybac transposon systems in order to generate multiple drug resistant clones in a range of human cancer cell lines. Illumina MiSeq; 144 bam,cram
EGAD00001000774 This study includes whole-genome sequencing data (at 4x depth) of 100 individuals from an Italian genetic isolate population (Carlantino, abbreviated CARL) of the Italian Network of Genetic Isolates (INGI). The INGI-CARL_SEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Illumina HiSeq 2000; 106 cram
EGAD00001000731 This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI). The INGI-VBI_SEQ2 project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Illumina HiSeq 2000; 100 bam
EGAD00001003242 This study comprises of three different datasets. 1) 57 samples from the 1243 canapps cell line study,2) 91 FFPE normal samples and 3) 87 samples from the SCORT WS2 dataset. The aim is to sequence these 235 samples in order to test the new V2 Colorectal bait design. Illumina HiSeq 2000;ILLUMINA 92
EGAD00001000387 This study aims to whole genome sequence DNA derived from breast cancer patients who received neo-adjuvany chemotherapy. All patients had multiple biopsies performed before chemotherapy. Patients who had residual disease after the course of treatment underwent a further biopsy. We aim to characterise the mutations involved. Illumina HiSeq 2000; 35 bam
EGAD00001000784 This study aims to target capture sequence regions of interest from DNA derived from breast cancer patients who received neo-adjuvant chemotherapy. All patients had multiple biopsies performed before chemotherapy. Patients who had residual disease after the course of treatment underwent a further biopsy. We aim to characterise the mutations involved. Illumina HiSeq 2000; 242 cram
EGAD00001000663 This study aims to re-sequence findings from whole genome studies using a bespoke pulldown method to validate mutations in those genomes sequenced. Illumina HiSeq 2000; 47 bam
EGAD00001000825 This study aims to define the landscape of somatic mutations in sun exposed human skin by deep sequencing, analyse their frequency and use the data to infer the effect of mutations on proliferating cell behaviour. The frequency of each mutation will reflect the size of the clone of cells in the tissue sample. By analyzing small samples, clones with as few as 100 cells will be detectable. Allele frequency distributions for each mutation will be used to infer cell fate using published methods (Klein et al. 2010). This study will shed unprecedented light on the early clonal events that lead to the emergence of cancer. Illumina HiSeq 2000; 454 cram
EGAD00001001090 This study aims to define the landscape of somatic mutations in sun exposed human skin by deep sequencing, analyse their frequency and use the data to infer the effect of mutations on proliferating cell behaviour. The frequency of each mutation will reflect the size of the clone of cells in the tissue sample. By analyzing small samples, clones with as few as 100 cells will be detectable. Allele frequency distributions for each mutation will be used to infer cell fate using published methods (Klein et al. 2010). This study will shed unprecedented light on the early clonal events that lead to the emergence of cancer. Illumina HiSeq 2000; 166 bam,cram
EGAD00001002198 This set of samples is composed of eight young people (7-16 years old) that have developed melanoma with first-degree relatives that have also developed cancer, which suggests a genetic component to their disease. Here we want to sequence these samples in order to find the causative mutations. As these samples do not carry any of the high-penetrance mutations known to date, finding the genes(s) responsible will offer new insights into the genetic mechanisms underlying predisposition to melanoma. HiSeq X Ten;, Illumina HiSeq 2000; 7 cram
EGAD00001001442 This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group Illumina HiSeq 2000; 86 bam,cram
EGAD00001000596 This project is to develop and validate a method to detect de novo mutations in a foetal genome through deep sequencing of cell-free DNA from the plasma of pregnant women. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 5 bam
EGAD00001001440 This project entailed generation of high depth WGS (30x) of 100 individuals from the general Greek population. HiSeq X Ten; 100 cram
EGAD00001000800 This project aims to study exomes from families and trios with congenital heart disease (CHD). The samples have been collected under the Competence Network - Congenital Heart Defects in Berlin, Germany. The phenotypes are mainly left ventricular outflow obstruction (aortic stenosis, bicuspd aortic valve disease coarctation and hypoplastic left heart), but will also include samples with hypoplastic right heart and atrioventricular septal defects. We will perform whole exome sequencing using Agilent sequence capture and Illumina HiSeq sequencing. Illumina HiSeq 2000; 406 bam,cram
EGAD00001000796 This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected in Leuven in collaboration with Koen Devriendt. Ethic approval has been sought for in Leuven, Belgium and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina). Illumina HiSeq 2000; 167 bam
EGAD00001000797 This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected at the Royal, Brompton Hospital in collaboration with Stuart Cook and Piers Daubeney. Ethic approval has been sought for in the UK and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina). Illumina HiSeq 2000; 48 bam
EGAD00001000343 This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina) Illumina HiSeq 2000; 24 bam
EGAD00001000342 This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth. This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh Illumina Genome Analyzer II;, Illumina HiSeq 2000; 66 bam
EGAD00001000341 This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified. Illumina HiSeq 2000; 6 bam
EGAD00001000351 This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD). Illumina Genome Analyzer II; 16 bam
EGAD00001000984 This is the Whole Exome Sequencing (WES) data from 59 samples from 11 patients with lung adenocarcinomas including 48 tumor samples and 11 peripheral white blood cell samples Illumina HiSeq 2000; 59 bam
EGAD00001000985 This is the targeted capture deep sequencing (TCS) data for validation of the mutations discovered in the WES step. There are 58 bam files of TCS data including 48 tumor samples and 10 peripheral blood WBC samples. Illumina HiSeq 2000; 58 bam
EGAD00001003750 This is the first whole exome sequencing analysis of a primary meningeal melanocytic tumour (MMT) alongside the patients germline. Here we report the CRAM files from the tumour and germline. Illumina HiSeq 2500;ILLUMINA 2
EGAD00001002263 This is the first dataset for the Botseq sequencing project Illumina HiSeq 2000;, Illumina HiSeq 2500; 39 bam
EGAD00001001040 This is the complete dataset (exome and genome) for the EGAS00001000974 study. Illumina HiSeq 2500; 16 bam
EGAD00001000249 This is the bam file generated after alignment using BWA program for the SAIF genome Illumina HiSeq 2000; 1 bam
EGAD00001000694 This is an ongoing project and continuation to all the sequencing we have been doing over the last few years. We have some additional families and probands with syndromes of insulin resistance not previously sequenced within uk10k or other core funded projects. We would like to complete the sequencing in all of the good quality families and probands we have, this would require another ~50 samples to be WES sequenced. This cohort has already proven to be a rich source of interesting findings with papers in Science and Nature genetics. Illumina HiSeq 2000; 68 bam,cram
EGAD00001003308 This is an in vitro genome-wide CRISPR/cas9 screen in human glioblastoma stem cells, screening for genes essential for survival of these cells. These cells express cas9 and have been transfected with a guide RNA library causing gene knockouts. We will analyse the sequencing data for depletion of guide RNAs. This dataset contains all the data available for this study on 2017-04-27. Illumina HiSeq 2000;ILLUMINA 10
EGAD00001002158 This is an in vitro genome-wide CRISPR/cas9 screen in human glioblastoma stem cells, screening for genes essential for survival of these cells. These cells express cas9 and have been transfected with a guide RNA library causing gene knockouts. We will analyse the sequencing data for depletion of guide RNAs. This dataset contains all the data available for this study on 2016-06-02. Illumina HiSeq 2000; 6 cram
EGAD00001001320 This is a study to test ATAC-seq protocols. CD4+ and CD8+ cells have been obtained from three different anatomical compartments. We aim to assay open-chromatin regions across these cells and perform comparative analyses. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 138 cram
EGAD00001000361 This is a small pilot data set to test the feasibility of cDNA exomes across 1200 cancer cell line panel. cDNA exomes or Fus-seq is further explained in this studies Abstract. Illumina HiSeq 2000; 3 bam
EGAD00001001237 This is a pilot project to determine whether the TAPG FFPE DNA's are suitable for deep sequencing. If successful an investigation of SNP distribution in a larger cohort will follow. Illumina HiSeq 2000; 15 cram
EGAD00001000653 This is a continuation of the Chordoma Sequencing Project. All cancers arise due to somatically acquired abnormalities in DNA sequence. Systematic sequencing of cancer genomes allows acquisition of complete catalogues of all classes of somatic mutation present in cancer. These mutation catalogues will allow identification of the somatically mutated cancer genes that are operative and characterise patterns of somatic mutation that may reflect previous exogenous and endogenous mutagenic exposures. In this application, we aim to perform whole genome sequencing on 10 chordoma matched genome pairs. RNA Sequencing/Methylation and SNP6 and an additional sequencing of three cancer cell lines will be added to this work. Illumina HiSeq 2000; 10 bam,cram
EGAD00001000721 This is a continuation of the Chordoma Sequencing Project. All cancers arise due to somatically acquired abnormalities in DNA sequence. Systematic sequencing of cancer genomes allows acquisition of complete catalogues of all classes of somatic mutation present in cancer. These mutation catalogues will allow identification of the somatically mutated cancer genes that are operative and characterise patterns of somatic mutation that may reflect previous exogenous and endogenous mutagenic exposures. In this application, we aim to perform whole genome sequencing on 10 chordoma matched genome pairs. RNA Sequencing/Methylation and SNP6 and an additional sequencing of three cancer cell lines will be added to this work. Illumina HiSeq 2000; 20 bam,cram
EGAD00001000280 This experiment is to validate putative somatic substitutions and indels identified in an exome screen of ~50 osteosarcoma tumour/normal pairs. It is the first stage in our ICGC commitment to study osteosarcoma. The validation process is an important component of our analysis to clarify the data prior to looking for evidence of new cancer genes, or subverted pathways important in the development of cancer. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 112 bam
EGAD00001001061 This experiment is to inform us of the validity of using pre-made library material to perform a bespoke pulldown experiment to validate the mutations found between the whole genome sequencing of the DNA from the same individuals cancer and normal material. This is to identify the valid and informative mutations in cancer genomes. Illumina MiSeq; 4 bam
EGAD00001000302 This experiment is looking at the mutational signatures generated by engineered HRAS mutations by using whole genome sequence generated on massively parallel next generation sequencers. Illumina HiSeq 2000; 6 bam
EGAD00001003837 This dataset, named Stockholm tumor progression cohort, contains exome-sequencing samples of matched primary and metastasis samples from 20 metastatic breast cancer patients. All patients have one or more sequenced normal samples as well. The total number of samples is 125. The dataset has been used, apart from other studies, to explore tumor evolution patterns in metastatic breast cancer at Karolinska Institute Stockholm. Illumina HiSeq 2500 (ILLUMINA) 125
EGAD00001003291 This dataset represents RNA-sequencing data from 278 primary colon cancers obtained from fresh-frozen tumor sections. RNA-sequencing was performed using TruSeq library preparation and samples were sequenced on Illumina NextSeq and HiSeq. The data are available as Illumina NextSeq and HiSeq fastq files (_R1.fastq and _R2.fastq for each tumor sample, 556 files in total). NextSeq 500 (ILLUMINA), Illumina HiSeq 2500 (ILLUMINA) 278
EGAD00001003755 This dataset provides whole genome sequencing data of normal/tumors pairs from 9 patients with uterine or ovarian carcinosarcoma using the HiSeq 2000 sequencing system. It includes 27 samples (9 normals, 16 uterine tumors and 2 ovarian tumors). Through separate whole genome sequencing of carcinomatous and sarcomatoid components, we analyse and compare the genomic alterations of these components. Illumina HiSeq 2000;ILLUMINA 27
EGAD00001000370 This dataset is compromised of 5 sequencing experiments from a single patient with sporadic and recurring parathyroid carcinoma. The samples include whole genome sequence of the primary tumor, the first recurrent tumor and peripheral blood. Whole transcriptome sequence of the first and second recurrent tumors are also included. Illumina HiSeq 2000; 5 bam
EGAD00001003769 This dataset is a time-series of EGFR-mutant NSCLC clinical specimens from an individual patient profiled using tumor-based whole exome sequencing and the data is in BAM format. DNA was extracted from FFPE for primary tumor and frozen tumor tissue samples and matched non-tumor tissue using the Qiagen Allprep DNA/RNA Mini Kit.  The library preparation protocol was based on the Agilent SureSelect Library Prep and Capture System. DNA was resuspended in a low TE buffer and sheared (Duty Cycle 5%; Intensity 175; Cycles/Burst: 200; Time: 300s, Corvaris S2 Utrasonicator).  Bar-coded exome libraries were prepared using the Agilent Sure Select V5 library kit per manfucaturer’s specifications. The libraries were run on the HiSeq2500. Raw paired end reads (100bp) in FastQ format generated by the Illumina pipeline were aligned to the full hg19 genomic assembly obtained from USCS, gencode 14, using bwa version 0.7.12. Picard tools version 1.117 was used to sort, remove duplicate reads and generate QC statistics. Tumor DNA was sequenced to median depth of 303X (range 114.39-383.41) and the matched germline DNA to average depth of 231.65. Illumina HiSeq 2500;ILLUMINA 8
EGAD00001002257 This dataset includes whole genome sequence information for three individuals (Mother, Father and Newborn) used in this study. Genomes were sequenced using Illumina HiSeq technology. Files included are fastq files in paired read format. Illumina HiSeq 2000; 3
EGAD00001001321 This dataset includes WGS & WTS alignment data generated from 1 ATC tumor, its matched peripheral blood specimen and 3 authenticated ATC cell lines, THJ-16T, THJ-21T and THJ-29T. In addition, it includes WTS data from extra 4 unique anaplastic cell lines, ACT-1, C643, HTh7 and T238. Illumina HiSeq 2000;, Illumina HiSeq 2500; 13 bam
EGAD00001001634 This dataset includes the whole genomes, sequenced to high depth (30x) of 25 individuals from Papua New Guinea. The individuals were chosen from several geographically distinct Papuan groups, focusing on the highland regions: Bundi, Kundiawa, Mendi, Marawaka and Tari. HiSeq X Ten; 25 cram
EGAD00001003315 This dataset includes the high-throughput sequencing data from a study entitled "Clonal History and Genetic Predictors of Transformation into Small Cell Carcinomas from Lung Adenocarcinomas". Whole-genome sequencing libraries were generated by PCR-free methods, and sequencing run was made in HiSeq X or HiSeq 2500 machines. PCR duplicates-marked, indel-realigned, and base-recalibrarted BAM files are provided in our dataset. HiSeq X Ten;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 15
EGAD00001003795 This dataset includes Nimblegen SeqCap EZ Exome v3 data for each lesion of three patients with multicentric glioma. For two patients, each lesion was sequenced along with whole blood. For a third patient, 3 pieces from the right lesion and 4 pieces from the left were sequenced along with whole blood. In each case BAM files that have been aligned with BWA mem alignment are available. 15
EGAD00001003446 This dataset includes deep coverage (>60x) whole exomes of 15 human embryonic stem cell lines. Genomic DNA was purified and fragmented using the Illumina Nextera system for library preparation and sequenced using 150bp paired-end reads. Sequencing reads were aligned to the hg19 reference genome using the BWA MEM alignment program. HiSeq X Ten;ILLUMINA 15
EGAD00001003512 This dataset includes bam files from 58 samples. These bam files include all read pairs where at least one of the reads aligns within 1kb of the HTT repeat expansion. These samples were sequenced using 2x150bp reads on an Illumina HiSeqX sequencer and aligned using bwa. Twelve of the samples used TruSeq Nano library preparation and 46 samples used TruSeq DNA PCR-free sample preparation. HiSeq X Ten;ILLUMINA 58
EGAD00001003513 This dataset includes bam files from 3,001 samples. These bam files include all read pairs where at least one of the reads aligns within 1kb of the C9orf72 repeat expansion. Additionally, these bam files also contain reads that are aligned to any of 29 pre-determined off target locations where the aligners are known to mis-align reads associated with this repeat expansion. These samples were sequenced using a combination of 2x100bp reads on an Illumina HiSeq2000 and 2x150bp reads on an Illumina HiSeqX sequencer and aligned using the Isaac aligner. HiSeq X Ten;ILLUMINA, Illumina HiSeq 2000;ILLUMINA 3,001
EGAD00001003562 This dataset includes bam files from 120 samples. These samples were sequenced using 2x150bp reads on an Illumina HiSeqX sequencer and aligned using the Isaac aligner. All samples were processed with TruSeq DNA PCR-free sample preparation. HiSeq X Ten;ILLUMINA 120
EGAD00001001085 This dataset includes 2 pairs of tumour/normal whole genome sequence data as well as MEN1 gene targeted sequencing of an additional 87 specimens. Illumina MiSeq;, Illumina HiSeq 2500; 91 bam
EGAD00001002719 This dataset contains whole-genome sequencing data files from colon organoid cultures, which were mutated using CRISPR-Cas9 for specific genes (APC, KRAS, TP53 and SMAD4) to generate in vitro transformed cancer cells. After introducing each mutation, the resulting cultures were subjected to whole-genome sequencing. In addition, some cultures were xenotransplanted in recipient mice. The resulting primary tumors and corresponding metastases were subjected to whole-genome sequencing. HiSeq X Ten;ILLUMINA 15 bam
EGAD00001003194 This dataset contains whole exome sequence of six HCC patients from Qidong China who are very likely exposed to aflatoxin. Illumina HiSeq 2500 (ILLUMINA) 12
EGAD00001001364 This dataset contains whole exome data from 8 esophageal adenocarcinoma tumors, that has been subjected to multiregion sequencing, ranging from 3-8 regions per tumor. In total, 40 tumor samples and 8 normal blood samples have been sequenced on Illumina HiSeq 2500 at a median dept of 90x. Illumina HiSeq 2500; 47 bam
EGAD00001002679 This dataset contains WES files for the SJACT cohort associated with the paper "Genetic landscape of pediatric Adrenocortical Tumor". In this paper, we analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or transcriptome sequencing. Illumina HiSeq 2000; 38 bam
EGAD00001003797 This dataset contains WES data (.bam files) and associated phenotype information from 10 patients included in our microbiome study who went on to anti PD-1 immunotherapy for the treatment of metastatic melanoma at the University of Texas MD Anderson Cancer Center. Both tumor and matching germ line normal were sequenced on each patient using Illumina HiSeq 2500. The average coverage was 283X in tumors and 135X in germline (tumor+germline overall:209, Range: 0-1552). Illumina HiSeq 2500;ILLUMINA 20
EGAD00001003803 This dataset contains VCF files from a variant calling analysis of 19 neuroblastoma patients. WES or WGS data of the primary tumor were compared to WES cfDNA analysis at the time of diagnosis and at a 2nd timepoint (complete remission, partial remission, disease progression or relapse). For 4 patients, WGS of germline, tumor at diagnosis and tumor at relapse DNA was performed on Illumina HiSeq2500, with 100-bp paired-end reads. For the other patients, WES was performed using either an AgilentSureSelect Human All Exon v5 or a Roche Nimblegen SeqCap EZ Exome V3 kit on Illumina HiSeq2000, with 100-bp paired-end reads. SNVs observed in any of the primary tumors or cfDNA samples studied by WES were targeted using a capture sequencing panel at all intermediate time points. 146
EGAD00001000967 This dataset contains the fastq sequencing data collected from bone marrow DNA of a chronic myeloid leukaemia patient at time of diagnosis. Illumina HiSeq 2000; 4 fastq
EGAD00001002654 This dataset contains RNA-seq, ATAC-seq, and ChIP-seq samples from the SJERG cohort. We applied ChIP-Seq for Dux4 on two B-cell ALL cell-lines(REH, Nalm6) along with INPUT. ATAC-Seq on two B-cell ALL cell-lines(REH, Nalm6) and xenograft of a B-cell ALL patient(ERG000016). Illumina HiSeq 2000;ILLUMINA 13
EGAD00001002680 This dataset contains RNA-Seq files for the SJACT cohort associated with the paper "Genetic landscape of pediatric Adrenocortical Tumor". In this paper, we analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or transcriptome sequencing. Illumina HiSeq 2000;ILLUMINA 26 bam
EGAD00001002242 This dataset contains RNA-seq and Hi-C data files of induced pluripotent stem (iPS) cells and iPS cell-derived neural progenitors (NPCs) derived from a germline chromothripsis patient and both parents. iPS cells of the patient (cell lines 14 and 15), the father (lines 23 (with two replicates) and 32) and mother (line 30) were differentiated to NPCs and RNA was collected on day 0, day 7 and day 10 of differentiation. In addition, Hi-C data for two iPS cell-derived NPC lines from the patient (14 and 15) and two lines from the father (23 and 32) was generated. AB 5500xl Genetic Analyzer;, Illumina HiSeq 2500;, NextSeq 500;ILLUMINA 22 bam
EGAD00001001627 This dataset contains RNA sequencing raw data from four parental tumors that were used for classification of gene expression subtypes (Verhaak, Cancer Cell 2010) using ssGSEA. Illumina HiSeq 2000; 4 bam
EGAD00001000725 This dataset contains RNA sequencing data for 675 cancer cell lines. RNA libraries were made with the TruSeq RNA Sample Preparation kit (Illumina) according to the manufacturer protocol. The libraries were sequenced on an Illumnia HiSeq 2000 Illumina HiSeq 2000; 675
EGAD00001003761 This dataset contains fastq files with Whole genome sequencing data for the CPC-Gene Project. Data from each sample was generated using multiple whole genome libraries and sequenced across multiple runs Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA, unspecified;ILLUMINA 617
EGAD00001003706 This dataset contains fastq files with Whole genome sequencing data for the CPC-Gene Project. Data from each sample was generated using multiple whole genome libraries and sequenced across multiple runs Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA, unspecified;ILLUMINA 616
EGAD00001001981 This dataset contains FASTQ files of targeted Amplicon deep-sequencing data, for validation of the mutations found in WES. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. 140 fastq in total, multiple runs for some of the samples. Please refer to the sample-ID from filename for merging. Illumina HiSeq 2500; 95
EGAD00001001978 This dataset contains FASTQ files for multi-region exome-sequencing of EGFR-mutant lung adenocarcinomas from Asian patient. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. Multiple runs for each sample, and 368 fastq in total. Please refer to the sample-ID from filename for merging. Illumina HiSeq 2000 (ILLUMINA) 95
EGAD00001001980 This dataset contains BAM files of targeted Amplicon deep-sequencing data, for validation of the mutations found in WES. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. Illumina HiSeq 2500; 95
EGAD00001003393 This dataset contains bam files for RNA-seq experiments for 6 neuroblastoma PDXs (Patient Derived Xenograft) and 3 pairs of neuroblastoma tumors at diagnosis and at relapse. NextSeq 500 (ILLUMINA), Illumina HiSeq 2500 (ILLUMINA), Illumina HiSeq 4000 (ILLUMINA) 12
EGAD00001003394 This dataset contains bam files for ChIP-seq experiments for 6 neuroblastoma PDXs (Patient Derived Xenograft). It includes the bam files for the H3K27ac mark as well as the bam files of the corresponding input DNA for each sample. Illumina HiSeq 2500 (ILLUMINA) 6
EGAD00001001979 This dataset contains BAM file for multi-region exome-sequencing of EGFR-mutant lung adenocarcinomas from Asian patient. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. Illumina HiSeq 2000; 95
EGAD00001002893 This dataset contains all RNA-seq runs for the BLN panel of cell lines and matched parental tumors. Tumor/cell line pairs have been authenticated using SNP profiles and all pairs were confirmed. Please note: The dataset also contains raw data from an early primary culture (BLN-1) where no stable cell line could be generated. Please also note different reference genomes. Illumina HiSeq 2000;ILLUMINA 21
EGAD00001003467 This dataset contains 77 tumor-normal pairs of exome sequencing data of HCC patient from National Taiwan University, Taiwan. Illumina HiSeq 2500;ILLUMINA 154
EGAD00010001177 This dataset contains 61 tumors SNP-array dataset from 15 EGFR mutant lung adenocarcinoma patients. Illumina 61
EGAD00001003466 This dataset contains 21 tumor-normal pairs of exome sequencing data of HCC patient from Chang Gung Memorial Hospital, Taiwan. Illumina HiSeq 2500;ILLUMINA 42
EGAD00010001176 This dataset contains 15 control SNP-array dataset from 15 EGFR mutant lung adenocarcinoma patients. Illumina 15
EGAD00001000254 This dataset contain the raw files generated for SAIF genome project Illumina HiSeq 2000; 1 fastq
EGAD00001003595 This dataset consists of TLA data in the parents of 9 healthy families and 11 B-thalasemia risk families during pregnancy, cell-free DNA sequencing data and Fetal DNA sequencing where available. TLA data was collected for the CFTR region in all healthy families and the CYP21A2 region in two of the healthy families. TLA data was collected for the HBB region in the risk families. In each pregnant mother, cell-free DNA was collected, enriched for the region of interest using sureselect pulldown and sequenced. Samples are labled Mother_X, Father_X and CVS_X for the healthy families and HBB_Mother_X, HBB_Father_X and HBB_CVS_X. cfDNA files can be found under the maternal sample, and each consist of three indices used to increase the maximum number of unique molecules per SNP. Both raw and processed cfDNA data is provided, raw data is mapped using BWA MEM, sorted using samtools and restricted to the region of interest for the sake of patient privacy. Processed data is mapped using BWA MEM, sorted using samtools, duplicate filtered using samtools rmdup, overlap-clipped using picardtools and restricted to the region of interest. NextSeq 500;ILLUMINA 55
EGAD00001001998 This dataset consists of sequencing data on 15 patients with Sezary syndrome. On 12 of these patients, we have exome sequencing data while on 10 patients, we have RNA sequencing data. In total for seven patients, we have both exome as well as RNA sequencing data. We looked for gene mutations and fusion events in these patients to identify genes that could be involved in the pathogenesis of the disease. Illumina HiSeq 2000;, Illumina HiSeq 2500; 30 fastq
EGAD00010001185 This data set includes the following summary level data files used for the GoT2D WGS analysis: wgs.assoc.samples.list: list of samples to keep for association analysis wgs.assoc.variants.list: list of variants to keep for association analysis wgs.sv.assoc.txt: single variant association results 0
EGAD00010001188 This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.samples.list: list of samples to keep for association analysis wes.assoc.variants.list: list of variants to keep for association analysis wes.sv.assoc.txt: single variant association analysis results wes.gene.ptv.variants.list.txt: list of protein truncating variants to use in gene-level analysis wes.gene.ptv.assoc.txt: results from gene-level tests of protein truncating variants wes.gene.nsstrict.variants.list.txt: list of NSstrict variants to use in gene-level analysis wes.gene.nsstrict.assoc.txt: results from gene-level tests of NSstrict variants wes.gene.nsbroad.variants.list.txt: list of NSbroad variants to use in gene-level analysis wes.gene.nsbroad.assoc.txt: results from gene-level tests of NSbroad variants wes.gene.ns.variants.list.txt: list of non synonymous variants to use in gene-level analysis wes.gene.ns.assoc.txt: results from gene-level tests of non synonymous variants 0
EGAD00010001184 This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples 0
EGAD00010001187 This data set includes the following summary level data file used for the exome chip analysis: exome_chip.sv.assoc.txt: results from single variant association analysis in exome chip 0
EGAD00001003215 This data set contains whole exome sequences of individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 1,702
EGAD00010001003 This data set contains two data files. First data file (file name: PREDO_GA_EGA_methylation_data.csv) includes methylation data from 485512 sites accross human genome from 96 individuals acquired from Illumina 450K -chip. The other data file (file name: PREDO_GA_EGA_phenotypes.csv) contains the gestation ages and the genders of the 96 samples. Illumina 450K-chip (methylation data) 96
EGAD00001002252 This data set contains next generation sequencing (NGS) data of two serial tumor samples (primary and a metastasis) from a patient with colorectal cancer showing an ERBB2 c.2264T>C (p.Leu755Ser). NGS was performed using the Illumina TruSeq Amplicon Cancer Panel (TSACP, Illumina) covering 212 amplicons in 48 cancer associated genes on the Illumina MiSeq sequencing platform. The dataset contains two BAM files. Illumina MiSeq; 2 bam
EGAD00001001317 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 12 cram
EGAD00001002183 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 96 bam,cram
EGAD00001003594 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-29. Illumina HiSeq 2500;ILLUMINA, Illumina HiSeq 4000;ILLUMINA 391
EGAD00001003347 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-05-24. Illumina HiSeq 2000;ILLUMINA 76
EGAD00001002194 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ We performed exome sequencing on serial samples from a patient with CMML who progressed to AML. The exome sequencing suggests that NPM1, TET2 and DNMT3a mutations were present in the dominant clone in the CMML sample and that NRAS is a new subclonal mutation in the AML sample. Diagnostic data shows the presence of a FLT3-ITD mutation in the AML sample, which is likely to have driven progression. Here we are performing re-sequencing of the putative driver and some passenger mutations which appear to be in the same clone to validate these mutations and to verify the relative quantification of these abnormalities . Illumina MiSeq; 10 cram
EGAD00001002253 Thirty cutaneous SCC WES tumour samples with matched normal include 20 samples from South et al. JID and 10 new samples. These 30 samples has been used to support the findings in the TGFb Nature Communications paper (DOI: 10.1038/ncomms12493). They are also a part of the ongoing study of cSCC genomic landscape of 40 cSCC samples in total. Illumina HiSeq 2500; 60 bam
EGAD00001000411 These samples include exome sequences of family members with dyslipidemias from northern Finnish origin. Illumina HiSeq 2000; 68 bam
EGAD00001000347 These samples include exome sequences of family members with dyslipidemias from Finnish origin. Illumina HiSeq 2000; 95 bam
EGAD00001002743 These samples comprise both melanoma cases and controls sequenced for a selection of loci linked to disease susceptibility. These bams are a subset of the sequencing restricted specifically to the GRCh37 coding areas of the BAP1 gene. 3,186 bam
EGAD00001000872 These samples are to be analysed with the CGP Developed cancer panel and the results will be compared with WGS data from 4 different comercial providers. Illumina HiSeq 2500; 8 cram
EGAD00001000349 These samples are from locally advanced breast cancers that have been treated with epirubicin monotherapy before surgery. We will sequence some samples from patients with good response to the therapy and some with poor response to the therapy. Illumina HiSeq 2000; 33 bam
EGAD00001002261 These files contain indels and structural variants on 769 GoNL samples (SV release 6, 2016-05-25). Illumina HiSeq 2000; 769 vcf
EGAD00001000743 These files contain a total of 20.4M SNVs and the complete information output by the GATK UnifiedGenotyper v1.4 on all 767 GoNL samples. These calls are not trio-aware and all genotypes were reported regardless of their quality. Both filtered and passing calls are reported in these files. Filtered calls include (1) calls failing our VQSR threshold and (2) calls in the GoNL inaccessible genome. 767 vcf
EGAD00001003463 These are the vcf files of exome sequencing of the two probands who were found to harbor mutations in KLB. Sample: EGAN00001564799 is the proband 1; Sample: EGAN00001564800 is the proband 11 in the KLB paper. Exome capture was performed using the SureSelect All Exon capture (Agilent Technologies, Santa Clara, CA USA) and sequenced on the HiSeq2500 (Illumina, San Diego CA USA). 2
EGAD00010001457 These are the log2CPM (log2 counts per million) fragments per gene counts associated with the BAM files in EGAD00001003806, in tab separated format. Counts for 36 postmortem brain samples from 9 non-demented control subjects and 9 Hereditary cerebral hemorrhage with amyloidosis-Dutch type subjects are included (1 Frontal cortex sample and 1 Occipital cortex sample per subject). RNA samples were depleted for ribosomal RNA with the Ribo Zero Gold Human kit (Illumina) and strand specific RNA-Seq libraries were generated. Paired-end sequencing was performed on a HiSeq2500 Illumina system (2x50bp reads). Alignments were performed using GSNAP v2014-12-23 with setting "--npaths 1" on GRCh38 reference genome without the alternative contigs. Fragment per gene counting was performed using HTSeq-count v0.6.1p1 with setting "--stranded reverse". The gene annotation used for quantification were UCSC RefSeq genes for GRCh38 downloaded on 2015-07-13. Illumina HiSeq 2500 36
EGAD00001003261 These are seven sequencing files form whole exome and whole genome of five tissue samples collected from one pancreatic cancer patient HiSeq X Ten;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 5
EGAD00001001031 These are only the whole exome sequences Illumina HiSeq 2500; 6 bam
EGAD00001001086 These analysis are the BAM files for the LCLs samples of the EUROBATS samples. 765 bai,bam
EGAD00001003760 There are 88 paired samples from HCC patients including tumors and matched adjacent normal tissues which were sequencing by Illumina HiSeq 2000 platform. Illumina HiSeq 2000;ILLUMINA 176
EGAD00001003218 There are 80 Brain cancer cases (160 samples)in this study and belong to GBM-CN project. Illumina HiSeq 2000;ILLUMINA 80
EGAD00001003310 There are 66 pairs of LAML cases(complete genomics) in this project which belongs to LAML-CN..The library is constructed by the Completes Genomics protocol. Complete Genomics;COMPLETE_GENOMICS 66
EGAD00001003456 There are 5WGS and 35WES sample pairs from the first affiliated hospital of kunming medical university, which belongs to ICGC projects COCA-CN. Illumina HiSeq 2000;ILLUMINA 80
EGAD00001003174 There are 116 liver cancer cases in this study and belong to LICA-CN project Illumina HiSeq 2000;ILLUMINA 232
EGAD00001000730 The VBSEQ project aims to combine available extensive genetic and phenotypic data to the latest high-throughput genome sequencing technology and ad hoc statistical analysis to identify new rare genetic variants underlying complex traits. Up to 100 Val Borbera samples will be sequenced to a 6x depth. Illumina HiSeq 2000; 110 bam
EGAD00001000729 The Val Borbera is a region characterized by low iodine and high prevalence of thyroid disorders, the commonest endocrine disorders in the general population. About 30% of the participants of the Val Borbera Project were affected by such disorders and were characterized by several parameters, TSH level, anti TPO antibodies, echography, family origin. Individuals with extreme phenotypes were identified and could be clustered based on family origin and genotype. We propose to exome sequence 6 of them, affected with true goiter, at high dept (40-60x) to obtain information on exonic rare variants. Due to the family structure and to the availability of whole genome sequence information on 110 individuals from the isolated population we expect to be able to identify putative causative variants for thyroid disorders that may be studied in the remaining affected individuals. Illumina HiSeq 2000; 8 bam
EGAD00001002015 The use of reference DNA standards generated from cancer cell lines sequenced in the Cancer Genome Project to establish the sensitivity, specificity, accuracy and reproducibility of the WTSI GCLP sequencing pipeline Illumina HiSeq 2000; 57 cram
EGAD00010000630 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 436
EGAD00010000628 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 0
EGAD00001002246 The T2D-GENES/GoT2D 13K exome sequencing study includes ~13,000 samples, half T2D cases and half T2D controls, from five ancestries (~5K Europeans, ~2K each of African-American, East-Asian, South-Asian, and Hispanic). Samples underwent deep exome sequencing, with SNVs and INDEls called according to GATK best practices; variant sites were then filtered according to the GATK best practices, and then samples and variants underwent further filtering based on aggregate genotype quality as described in Fuchsberger et al. (e.g. low call rate, excess heterozygosity for samples, low call rate or coverage for variants). Please note that one of the samples in the T2D-GENES vcf does not have phenotype data. 13,007 phenotype_file,vcf
EGAD00001003309 The study will investigate serial samples from the same patient taken at the time of MGUS or SMM diagnosis, and later at the time of evolution towards MM. Samples will be sequenced by whole genome along with a matched normal to obtain the highest possible amount of information toinvestigate genomic changes at disease evolution. This dataset contains all the data available for this study on 2017-04-27. HiSeq X Ten;ILLUMINA 139
EGAD00001001898 The study will investigate serial samples from the same patient taken at the time of MGUS or SMM diagnosis, and later at the time of evolution towards MM. Samples will be sequenced by whole genome along with a matched normal to obtain the highest possible amount of information toinvestigate genomic changes at disease evolution. This dataset contains all the data available for this study on 2016-01-27. HiSeq X Ten; 131 cram
EGAD00001002178 The study will analyse by exome sequencing 8 Greek family members with an excess of potentially damaging mutations relating to premature MI and no vessel disease, to identify genetic factors underlying this condition. This is a follow on from project GPMI-NVD Illumina HiSeq 2000; 8 cram
EGAD00001000402 The study will analyse by exome sequencing 42 Greek patients with premature MI and no vessel disease to identify genetic factors underlying this condition. Illumina HiSeq 2000; 46 bam
EGAD00001003330 The samples will be sequenced for a targeted panel of cancer relevant genes (n ~ 370) and analysed for somatic mutations. This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA 416
EGAD00001001018 The samples will be sequenced for a targeted panel of cancer relevant genes (n ~ 370) and analysed for somatic mutations. This dataset contains all the data available for this study on 2014-09-24 Illumina HiSeq 2000; 374 cram
EGAD00001003452 The samples include paired tumor and normal tissues from 205 patients (201 for normal and primary tumor tissues; 4 for normal, primary tumor and liver metastatic tissues). High-coverage WES sequencing or whole genome sequencing of DNA samples were performed on the Illumina HiSeq 2000 system Illumina HiSeq 2000;ILLUMINA 30
EGAD00001003551 The samples include paired tumor and normal tissues from 106 patients . High-coverage WES sequencing or whole genome sequencing of DNA samples were performed on the Illumina HiSeq 2000 system Illumina HiSeq 2000;ILLUMINA 212
EGAD00001000744 The samples in this panel come from 250 families: 248 parents-child trios and 2 parent-child duos. As the children do not provide additional haplotypes or population information, they were excluded from the panel. The samples present in the release are composed of 248 couples, 2 single individuals and 1 sample composed from the 2 haplotypes from the duo's children transmitted by their missing parent. The composed sample is named gonl-220c_223c. The files contain a total of 18.9M SNVs and 1.1M INDELs in autosomal chromosomes. They were generated by phasing/imputing the SNVs (a) and INDELs (b) using MVNCall. Only sites passing filters are reported. Sites filtered as part of the GoNL inaccessible genome were kept (but flagged as filtered) and still may contain true positive calls but should be used with care as they are located in parts of the genome that are less well captured (systematic under or over-covered or low-mapping quality) 499 vcf
EGAD00001003791 The SAHGP characterises the genomes of 24 individuals (8 Coloured and 16 black southeastern Bantu-speakers) using deep whole genome sequencing (WGS). 24
EGAD00001000871 The purpose of this study is to sequence 500 known cancer genes in 960 newly diagnosed high risk breast cancer patients treated with current standard of care therapies and trastuzumab, for somatic alteration and copy number changes. We will be using next gen sequencing technology to determine the prognostic relevance of these somatic genetic alterations and of teh low frequency events to determine if they are associated with trastuzumab benefit or HER2 positive breast cancer, i.e. treatment interaction. The samples will be analysed adn correlated with clinical variables including outcome. Illumina HiSeq 2000; 993 cram
EGAD00001001453 The project is to evaluate the genomic binding sites of the histone demethylase JARID1C. This gene was recently identified in CGP as a novel recessive cancer gene in human renal cell carcinoma. Illumina Genome Analyzer II; 4 bam
EGAD00001003565 The project is focused on the axonal forms of Charcot-Marie-Tooth (CMT) disease. We have selected 13 families (7 from Spain and 6 from Czech Republic) that have been indepth clinically assessed and previously tested for mutations in known CMT genes without causal variants characterised. In these patients we expect to discover several CMT2 genes. Thus, we requested for exome sequencing of 45 DNAs:27 exomes in families from Spain and 18 exomes in the families from Czech Republic. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-16. Illumina HiSeq 2500;ILLUMINA 45
EGAD00001001946 The Prenatal Assessment of Genomes and Exomes (PAGE) study is a multicentre prospective trial, performing exome sequence analysis on samples from 1000 families with structural anomalies in prenatal ultrasound screening but normal aneuploidy results. The data will enable discovery of novel genetic disorders and increase the diagnostic yield. Where appropriate, results will be reported back to the families at the end of the pregnancy, after thorough clinical review. Ultimately, the translation of the acquired know-how into cost-effective prenatal diagnostic sequencing will improve genetics-derived prognoses and allow more informed parental counselling as well as management of pregnancy and childbirth. Illumina HiSeq 2000; 489 cram
EGAD00001003213 The olfactory gene repertoire is largely species-specific, shaped by the nature and necessity of chemosensory information for survival in each species' niche. We are intrigued by this interspecific variation and started to investigate the olfactory transcriptome in primates for evidence of selection at the level of receptor gene choice. Having collected this data from two primates, we now wish to extend the analysis to humans. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500;ILLUMINA 9
EGAD00001001025 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 50-80%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples from Birmingham will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 1,156 bam,cram
EGAD00001001079 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing cohort samples from the Born In Bradford study will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples.Data Access is controlled by the Wellcome Trust Sanger Institute DAC and the Born In Bradford Executive Group. This dataset contains all the data available for this study on 2014-11-20. Illumina HiSeq 2000; 2,702 vcf,cram
EGAD00001003329 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing cohort samples from the Born In Bradford study will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples. This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 3,188
EGAD00001001027 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consists of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 130 cram
EGAD00001001026 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing British-Pakistani cohort samples from Birmingham will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consists of low coverage whole exome sequencing on these samples. Illumina HiSeq 2000; 452 cram
EGAD00001001425 The objectives of this project are the identification of markers related to cancer therapy resistance in the blood of breast cancer patients and to study the genetic changes in cancer cells during this development of resistance. Whole genome amplified DNA from Circulating Tumor Cells (CTCs), selected during the course of systemic treatment from blood of metastatic breast cancer patients, will be exome sequenced . The patients selected for this study did not respond to therapy. Illumina HiSeq 2000; 149 cram
EGAD00001000340 The objective of this study is to resequence of targeted intervals containing autosomal recessive variants causing neurological disorders in consanguineous pedigrees. Using homozygosity mapping, three intervals of very different sizes have previously been unambiguously mapped for three different neurological diseases: 2.4Mb, 8Mb and 14.3Mb in size, for Microlissencephaly, Severe Mental Retardation and Complicated hereditary spastic paraplegia respectively. This study is a pilot to assess how well custom targeted resequencing performs across a broad size range of intervals. The study design is to use a different custom capture probe set for each interval, pulldown from a single patient from each family, and sequence 1 lane using Illumina paired-reads for each sample. Candidate variants will be followed up in the families themselves, and in patients with similar phenotypes from outbred populations Illumina Genome Analyzer II; 3 bam
EGAD00001001012 The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. AB 5500xl Genetic Analyzer; 267 fastq
EGAD00001003101 The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. 267 vcf
EGAD00001001373 The mtDNA and Y chromosome of up to 15 Australian Aborigines, concentrating on individuals with indigenous lineages, will be sequenced using the standard whole-genome sequencing followed by filtering out of autosomal and X sequences, so that only mtDNA and the Y chromosome will be analysed and released. Illumina HiSeq 2000; 7 bam
EGAD00001001374 The mtDNA and Y chromosome of up to 15 Australian Aborigines, concentrating on individuals with indigenous lineages will be sequenced using the standard whole-genome sequencing followed by filtering out autosomal and X sequences, so that only mtDNA and the Y chromosome would be analysed and released. Illumina HiSeq 2500; 6
EGAD00001002144 The morphology of the first humans in the Americas (Paleoamericans) differs from that of Native Americans, and has raised the question of whether or not there are also differences in origin or genetics. A few populations who survived until relatively recently have been suggested to retain Paleoamerican morphology. One of these populations is from La Jolla. Here, we have generated genome sequence data from four La Jolla individuals in order to investigate these questions This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 4 cram
EGAD00001003596 The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients. This dataset contains all the data available for this study on 2017-08-29. Illumina HiSeq 2000;ILLUMINA 125
EGAD00001003455 The MHC vcf call set was generated using a modified AsmVar and BayesTyper pipeline. In contrast to the original pipeline, where variant calling is performed using alignment of collapsed assemblies to a reference genome, the MHC call set was produced using alignment of phased MHC haplotypes. Two iterations of BayesTyper was run, a first iteration for each haplotype seperately and a second iteration performing joint variant calling on all haplotypes. The sample IDs for the fathers and mothers are TrioID-01 and TrioID-02, respectively, and the IDs for the children are TrioID-0x, where x is a number between 3 and 7. 25
EGAD00001001360 The majority of neuroblastoma patients have tumors that initially respond to chemotherapy, but a large proportion of patients will experience therapy-resistant relapses. The molecular basis of this aggressive phenotype is unknown. Whole genome sequencing of 23 paired diagnostic and relapsed neuroblastomas showed clonal evolution from the diagnostic tumor with a median of 29 somatic mutations unique to the relapse sample. Eighteen of the 23 relapse tumors (78%) showed RAS-MAPK pathway mutations. Seven events were detected only in the relapse tumor while the others showed clonal enrichment. In neuroblastoma cell lines we also detected a high frequency of activating mutations in the RAS-MAPK pathway (11/18, 61%) and these lesions predicted for sensitivity to MEK inhibition in vitro and in vivo. Our findings provide a rationale for genetic characterization of relapse neuroblastoma and show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease. 221 other,vcf
EGAD00001000625 The main objective of this benchmark is the comparison of the full sequencing pipeline of different ICGC partners, including procedures, methods and performance of library preparation and whole-genome deep-sequencing. A secondary objective will be a follow-up comparison of data analysis pipelines for identification of germline and somatic variants subsequent to the results of the ICGC Somatic Variant Calling Pipeline Benchmark. Illumina HiSeq 2000; 2 bam
EGAD00001000133 The landscape of cancer genes and mutational processes in breast cancer Illumina HiSeq 2000, Illumina Genome Analyzer II 199 bam
EGAD00001001601 The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription influence type 2 diabetes (T2D) predisposition and glucose homeostasis. However, the specific genes through which these regulatory variants act remain poorly characterized. To identify such effector transcripts for T2D and glycemic traits, we generated expression quantitative trait locus (eQTL) data in 118 human islet samples using RNA-sequencing and high-density genotyping. Illumina HiSeq 2000; 118 vcf,bam
EGAD00001003703 The incidence of acute myeloid leukemia (AML) increases with age and mortality exceeds 90% when diagnosed after age 60. Only 10-15% of cases evolve from a pre-existing myeloproliferative or myelodysplastic disorder; the remaining cases arise de novo without a detectable prodrome and are diagnosed upon development of bone marrow failure. Analysis of diagnostic blood samples has demonstrated that de novo AML is preceded by the accumulation of somatic mutations in pre-leukemic hematopoietic stem and progenitor cells (preL-HSPCs) that subsequently undergo clonal expansion. If individuals in this pre-leukemic phase could be identified, methods for determination of risk and monitoring for progression to overt AML could be developed. However recurrent AML mutations also accumulate during aging in healthy individuals who never develop AML, referred to as age related clonal hematopoiesis (ARCH). To distinguish individuals with preL-HSPCs at high risk of developing AML from those with ARCH, we undertook deep targeted sequencing of genes recurrently mutated in AML in blood samples from 133 individuals in the European Prospective Investigation into Cancer and Nutrition (EPIC) study taken on average 6 years before they developed AML (pre-AML group), together with 683 matched healthy individuals (Control group). Pre-AML cases displayed accelerated age-correlated accumulation of somatic mutations.The identity, number and variant allele frequency (VAF) of mutations differed between the two groups, and were incorporated into a computational model of AML risk prediction that accurately distinguished pre-AML cases from controls on average 7 years prior to AML development. Our findings provide proof of concept that early prediction of AML development is feasible in high-risk populations, paving the way for early disease detection, monitoring, and potentially prevention. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 628
EGAD00001001638 The HELIC study has been whole genome sequencing individuals from 2 Greek isolated populations at 1x depth. The genotype calling process crucially involves a VQSR step followed by imputation-based refinement. We have been investigating optimal ways to increase calling accuracy. To aid us in setting appropriate parameters for VQSR and other QC steps, we have carried out whole exome sequencing of a small number of HELIC samples. Illumina HiSeq 2000; 5 cram
EGAD00001002247 The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g. leaner, younger cases and older, more obese controls). Genotypes (SNVs, INDELs, and SVs) were called separately for each technology and then integrated via genotype refinement into a single phased reference panel; samples and variants were then excluded based on QC procedures described in Fuchsberger et al. Please note that 2 of the samples in the GoT2D vcf do not have phenotype data. 2,872 phenotype_file,vcf
EGAD00001001849 The genomic sequence of brain expressed miRNA genes was sequenced in Swedish schizophrenia patients Illumina MiSeq; 186 fastq
EGAD00001001851 The genomic sequence of brain expressed miRNA genes was sequenced in Belgian epilepsy patients. Illumina MiSeq; 163 fastq
EGAD00001000360 The genome-wide landscape of somatically acquired mutations in mesothelioma has not been deeply characterised to date, but advances in DNA sequencing technology now allow this to be addressed comprehensively. Harnessing massively parallel DNA sequencing platforms, we will identify somatically acquired point mutations in all coding regions of the genome from patients with mesothelioma. In addition, using paired-end sequencing, we will map copy number changes and genomic rearrangements from the same patients. Illumina HiSeq 2000; 232 bam,cram
EGAD00001000693 The genetic consequences of cellular transformation by Epstein-Barr-Virus were assessed by comparing whole genome sequences of the original genome (before transformation) and the genome after transformation. 2 bam,vcf
EGAD00001000138 The expression data for this study can be found here: http://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-1088/ and its SNP6 data can be found here: http://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-1087/ Illumina HiSeq 2000, Illumina Genome Analyzer II 58 bam,srf
EGAD00001003303 The evolution of four breast cancers was analyzed using longitudinal samples collected over 2-15 years. Whole-genome sequencing and single-cell RNA-Seq were used to analyze evolution. We have deposited VCF files for SNV, indel, and structural variant calls from WGS data, and a text file showing transcripts per million (TPM) expression for the single-cell RNA-Seq data. 16
EGAD00001000636 The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL), is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize the critical secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, accounting for at least 43% of genomic rearrangements and characterized by the presence of recombination signal sequence motifs near the breakpoints; incorporation of non-templated sequence at the junction and a ten-fold enrichment at promoters and enhancers of genes actively transcribed in early B-lineage development. Single-cell tracking shows that this mechanism is not restricted to one founder cell but is rather active throughout leukemic evolution. Integration of point mutation and rearrangement data identifies recurrent inactivation of ATF7IP and MGA as two new tumor suppressor genes.Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1 lymphoblasts, striking promoters and enhancers of the genes that normally control B-cell differentiation. Illumina Genome Analyzer II; 117 bam
EGAD00001000634 The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL), is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize the critical secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, accounting for at least 43% of genomic rearrangements and characterized by the presence of recombination signal sequence motifs near the breakpoints; incorporation of non-templated sequence at the junction and a ten-fold enrichment at promoters and enhancers of genes actively transcribed in early B-lineage development. Single-cell tracking shows that this mechanism is not restricted to one founder cell but is rather active throughout leukemic evolution. Integration of point mutation and rearrangement data identifies recurrent inactivation of ATF7IP and MGA as two new tumor suppressor genes.Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1 lymphoblasts, striking promoters and enhancers of the genes that normally control B-cell differentiation. Illumina HiSeq 2000; 2 bam
EGAD00001000635 The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL), is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize the critical secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, accounting for at least 43% of genomic rearrangements and characterized by the presence of recombination signal sequence motifs near the breakpoints; incorporation of non-templated sequence at the junction and a ten-fold enrichment at promoters and enhancers of genes actively transcribed in early B-lineage development. Single-cell tracking shows that this mechanism is not restricted to one founder cell but is rather active throughout leukemic evolution. Integration of point mutation and rearrangement data identifies recurrent inactivation of ATF7IP and MGA as two new tumor suppressor genes.Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1 lymphoblasts, striking promoters and enhancers of the genes that normally control B-cell differentiation. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 50 bam,srf
EGAD00001000598 The Ethiopian area stands among the most ancient ones ever occupied by human populations and their ancestors. Particularly, according to archaeological evidences, it is possible to trace back the presence of Hominids up to at least 3 million years ago. Furthermore, the present day human populations show a great cultural, linguistic and historic diversity which makes them essential candidate to investigate a considerable part of the African variability. Following the typing of 300 Ethiopian samples on Illumina Omni 1M (see Human Variability in Ethiopia project, previously approved by the Genotyping committee) we now have a clearer idea on which populations living in the area include the most of the diversity. This project therefore aims to sequence the whole genome of 300 individuals at low (4-8x) depth belonging to the six most representative populations of the Ethiopian area to produce a unique catalogue of variants peculiar of the North East Africa. Furthermore 6 samples (one from each population) will also be sequenced at high (30x) depth to ensure full coverage of the diversity spectrum. The retrieved variants will be of great help in evaluating the demographic dynamics of those populations as well as shedding light on the migrations out of Africa. Illumina HiSeq 2000; 120 bam
EGAD00001000696 The Ethiopian area stands among the most ancient ones ever occupied by human populations and their ancestors. Particularly, according to archaeological evidences, it is possible to trace back the presence of Hominids up to at least 3 million years ago. Furthermore, the present day human populations show a great cultural, linguistic and historic diversity which makes them essential candidate to investigate a considerable part of the African variability. Following the typing of 300 Ethiopian samples on Illumina Omni 1M (see Human Variability in Ethiopia project, previously approved by the Genotyping committee) we now have a clearer idea on which populations living in the area include the most of the diversity. This project therefore aims to sequence the whole genome of 300 individuals at low (4-8x) depth belonging to the six most representative populations of the Ethiopian area to produce a unique catalogue of variants peculiar of the North East Africa. Furthermore 6 samples (one from each population) will also be sequenced at high (30x) depth to ensure full coverage of the diversity spectrum. The retrieved variants will be of great help in evaluating the demographic dynamics of those populations as well as shedding light on the migrations out of Africa. Illumina HiSeq 2000; 5 bam
EGAD00001000403 The ENGAGE project is a FP7 funded EU project aiming to combine genetic and phenotype information from European population based cohorts. In this sub-project we aim to do whole exome sequencing of individuals selected from Health 2000 and FINRISK cohorts. Individuals have been selected based on their metabolic trait phenotypes Illumina HiSeq 2000; 394 bam
EGAD00001002236 The disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription; co-ordinated secondary alterations in transcriptional pathways; and increased transcriptional noise. To catalogue the rules governing how somatic mutation Overall, 59% of 6980 exonic substitutions were expressed. Compared to other classes, nonsense mutations showed lower expression levels than expected with patterns characteristic of nonsense-mediated decay. 14% of 4234 genomic rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusion transcripts and premature poly-adenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes may drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data therefore reveals the rules by which transcriptional machinery interprets somatic mutation. Illumina HiSeq 2000; 32 bam
EGAD00001002237 The disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription; co-ordinated secondary alterations in transcriptional pathways; and increased transcriptional noise. To catalogue the rules governing how somatic mutation Overall, 59% of 6980 exonic substitutions were expressed. Compared to other classes, nonsense mutations showed lower expression levels than expected with patterns characteristic of nonsense-mediated decay. 14% of 4234 genomic rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusion transcripts and premature poly-adenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes may drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data therefore reveals the rules by which transcriptional machinery interprets somatic mutation. Illumina HiSeq 2000;ILLUMINA, Illumina Genome Analyzer II;ILLUMINA 59 bam,srf
EGAD00001003348 The differentiation of distinct multifocal hepatocellular carcinoma (HCC): multicentric disease vs. intrahepatic metastases, in which the management and prognosis varies substantively, remains problematic. We aim to stratify multifocal HCC and identify novel diagnostic and prognostic biomarkers by performing whole genome and transcriptome sequencing, as part of a multi-omics strategy. Illumina HiSeq 2000;ILLUMINA 8
EGAD00001001029 The dataset regards the sequencing of coding and putative regulatory sequences of 38 genes associated to either sporadic or Mendelian form of Parkinson's disease Illumina HiSeq 2000; 394 bam
EGAD00001000901 The dataset includes the whole exome sequencing data from 32 pairs of gallbladder caner tissues and patient-matched normal tissues. Illumina HiSeq 2500; 64 bam
EGAD00001000902 The dataset includes the targeted gene sequencing data from 51 pairs of gallbladder caner tissues and patient-matched normal tissues. Illumina HiSeq 2500; 102 bam
EGAD00001001303 The dataset for the PROP1 study consists of samples of patients with combined pituitary hormone deficiency due to two most prevalent mutations in the PROP1 gene (c.301_302delGA and c.150delA) and healthy relatives and controls. All subjects were genotyped for 21 single nucleotide polymorphisms surrounding the PROP1 gene in order to assess the potential ancestral origin of the respective mutations. The genotype data are displayed in the vcf format. 328 vcf
EGAD00001003792 The dataset for High Grade Serous Ovarian Carcinomas Originate in the Fallopian Tube includes 46 bam files from next-generation sequencing on the Illumina HiSeq2500. The samples analyzed include multiple lesions from nine patients, five with high grade serous ovarian carcinoma and four who are BRCA-carriers. Illumina HiSeq 2500;ILLUMINA 46
EGAD00001003601 The dataset for Direct Detection of Early-Stage Cancers using Circulating Tumor DNA includes 602 bam files from next-generation sequencing on the Illumina HiSeq2500 or MiSeq. The samples analyzed include cancer cell lines as well as plasma and tissue specimens from healthy individuals and patients with cancer. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 550
EGAD00001000733 The dataset entails 48 RRBS libraries of 24 siblings. 24 individuals are conceived during the Dutch Famine, a severe 6 month famine at the end of World War 2. A same sex sibling was added as a control, allowing partial matching for (early) familial environment and genetics. Illumina Genome Analyzer IIx; 48 bam
EGAD00001002146 The dataset contains the whole genome sequencing data of a family with two unaffected parents and two probands that showed Hereditary spastic paraplegias symptoms. Sequencing reads were aligned to human genome (GRCh38) using BWA-MEM, followed by indel-realignment and PCR-duplicates marking. Alignment results are available for download in BAM format. HiSeq X Ten; 4 bam
EGAD00001003131 The dataset consists of two main sample groups. 1) The inter-tumour sample group contains a total of 97 samples from 27 patients. Each patient has a single normal and primary sample as well as one or more metastases. All samples were sequenced using IonTorrent PGM and a custom colorectal cancer (CRC) panel. 2) The intra-tumour sample group contains a total of 68 samples from a single tumour as well as a normal tissue sample. All 68 samples were sequenced using IonTorrent PGM and a custom CRC panel. Shallow whole genome sequencing was additionally applied to 10 of the samples using Illumina HiSeq 4000. Ion Torrent PGM;ION_TORRENT, Illumina HiSeq 4000;ILLUMINA 193
EGAD00001002068 The dataset consists of 232 RNA-seq samples (whole blood) obtained from healthy female from the TwinsUK adult registry cohort. The samples were obtained at two time points separated on average by 22 months. Illumina HiSeq 2000; 232 bam,phenotype_file
EGAD00001003822 The dataset comprises 8 breast cancer, 11 ovarian cancer, 1 benign tumour, 18 normal tissue, 2 endometrium, and 23 white blood cell samples. Genome wide methylation analysis was performed by Reduced Representation Bisulfite Sequencing (RRBS) on Illumina HiSeq 2500. Data is provided as FASTQ files Illumina HiSeq 2500;ILLUMINA 63
EGAD00001002678 The data set consists of low-pass whole genome sequence data of single CTCs, pools of CTCs and germline controls for a cohort of 31 SCLC patients at both baseline, and for 5 patients at relapse. In addition 9 CDX models and associated germline controls (where available) are included. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2500;ILLUMINA, NextSeq 500;, NextSeq 500;ILLUMINA 319 fastq
EGAD00001002892 The data contains genome sequencing of clear cell renal cell carcinomas and normal kidney tissues. The samples were collected from patients from different European countries. Illumina HiSeq 1000;ILLUMINA 21 fastq
EGAD00001003813 The data contain whole exome sequencing of 27 Greenlanders in nine trios. Data were produced by Agilent SureSelect capture followed by paired-end Illumina HiSeq 2000 sequencing to a depth of 90.1X. More details on processing and analysis can be found in Moltke et al, Nature 2014 (PMID 25043022). Illumina HiSeq 2000;ILLUMINA 27
EGAD00001003814 The data contain whole deep RNA sequencing of leukocytes from 17 Greenlanders. RNA was purified from peripheral blood with the PAXGene Blood miRNA Kit (Qiagen). The RNA sequencing library was prepared following the instructions of the TruSeq RNA Sample Prep Kit v2 (Illumina). For mRNA isolation and fragmentation 200 ng of total RNA was purified by oligo-dT beads. The qualified libraries were amplified on cBot to generate the cluster on the flowcell (TruSeq PE Cluster Kit V3–cBot–HS, Illumina). The amplified flow cell was sequenced paired-end on the HiSeq 4000 System (TruSeq SBS KIT-HS V3, Illumina). Illumina HiSeq 4000;ILLUMINA 17
EGAD00001000875 The CRO7 clinical trial recruited patients with clinically operable rectal adenocarcinoma. Patients were randomized to either pre-operative short course surgery followed by chemo-radiotherapy only in those patients at high risk of local relapse. Patients in both arms the received standard %-FU based adjuvant chemotherapy as per local policy. We intend to use FFPE derived DNA from the primary tumours to identify patterns of mutations or copy number alterations that are predictive of local or distant relapse. Illumina HiSeq 2000; 330 cram
EGAD00001002266 The contribution of genetic predisposing factors to the development of pediatric acute lymphoblastic leukemia (ALL), the most frequently diagnosed cancer in childhood, has not been fully elucidated. Children presenting with multiple de novo leukemias are more likely to suffer from genetic predisposition. Here, we selected five of these patients and analyzed the mutational spectrum of normal and malignant tissues. AB SOLiD 4 System;ABI_SOLID, AB 5500xl Genetic Analyzer;ABI_SOLID 14 bam
EGAD00001003260 The cell lines in this study are a combination of internally sequenced (cosmic) and externally sequenced cell lines known to be “double-wild-type” (lacking BRAF and NRAS somatic mutations). These sequences were realigned in this data set for consistency. 22
EGAD00001000398 The Cardiogenics re-sequencing study will consist of three parts: Eight pools of 25 individuals will be sequenced using a Nimblegen hybrid-capture solution specific to miRNA sequences, 80 pools of 25 individuals will be sequenced using a custom Agilent SureSelect array covering genes associated with coronary artery disease (CAD) and myocardial infarction (MI), 10 individuals from families with a history of CAD/MI will be exome sequenced using the Sanger exome array. The experiment will use the early onset patients from the German MI cohort and the UK BHF CAD/MI cohort both of which have strong family history. For controls we will consider individuals from the UKBS and KORA cohorts. Illumina Genome Analyzer II; 8 bam
EGAD00001000397 The Cardiogenics re-sequencing study will consist of three parts: Eight pools of 25 individuals will be sequenced using a Nimblegen hybrid-capture solution specific to miRNA sequences, 80 pools of 25 individuals will be sequenced using a custom Agilent SureSelect array covering genes associated with coronary artery disease (CAD) and myocardial infarction (MI), 10 individuals from families with a history of CAD/MI will be exome sequenced using the Sanger exome array. The experiment will use the early onset patients from the German MI cohort and the UK BHF CAD/MI cohort both of which have strong family history. For controls we will consider individuals from the UKBS and KORA cohorts. Illumina HiSeq 2000; 47 bam
EGAD00001000400 The Cardiogenics re-sequencing study will consist of three parts: Eight pools of 25 individuals will be sequenced using a Nimblegen hybrid-capture solution specific to miRNA sequences, 80 pools of 25 individuals will be sequenced using a custom Agilent SureSelect array covering genes associated with coronary artery disease (CAD) and myocardial infarction (MI), 10 individuals from families with a history of CAD/MI will be exome sequenced using the Sanger exome array. The experiment will use the early onset patients from the German MI cohort and the UK BHF CAD/MI cohort both of which have strong family history. For controls we will consider individuals from the UKBS and KORA cohorts. Illumina HiSeq 2000; 12 bam
EGAD00001002182 The BMP antagonist Grem1 has been shown to be associated with a rare human polyposis syndrome (HMPS). We have shown that there is a 40KB duplication on chrom 15 found in some patients with HMPS. Traditional serrated adenomas (rare sporadic polyps) share some morphological features with HMPS polyps and it has long been hypothesised that they are the sporadic version of HMPS polyps. We have obtained of one of these lesions and in this project we aim to characterise this tumour. Illumina HiSeq 2000; 2 cram
EGAD00001002205 The BLUEPRINT project is a large-scale project investigating epigenetic mechanisms involved in blood formation, in health and disease. The human variation workpackage (WP10, led by NS) of the project seeks to characterize the effect of common sequence variation on the epigenome status of a cell. To do this, the project will use highly purified blood cells to minimise "experimental noise" and therefore enhance the power to discover modest effects. Two peripheral blood cell types, the CD14+CD16- monocyte (an important central orchestrator of adaptive immunity and a bridge between innate and adaptive immunity) and the CD65+CD9- neutrophilic granulocyte (the frontline cell for innate immunity) have been selected for this purpose. The two types of cells will be obtained at high purity from adult blood (AB) of 200 healthy males and females, respectively. Cells will be purified by using already validated and fully operational protocols that are based on density gradient centrifugation of the buffy coat obtained from whole blood, followed by magnetic bead-based purification using monoclonal antibodies against Cluster of Differentiation (CD) lineage-specific cell surface markers. Units of 475 ml of AB will be obtained from consenting volunteers of the Cambridge BioResource (CBR), a panel of 10,000 healthy volunteers local to Cambridge who have already consented to participate in biomedical research and of whom biological samples (DNA, plasma, serum) and lifestyle data have been deposited in a repository and database, respectively. We are requesting funding from the Human Diversity project to sequence the genomes of the 200 CBR volunteers at low pass (6x coverage). Nuclei, DNA and RNA will be recovered from the purified cells and made available for RNA-seq, DNA-seq and ChIP-seq and genomic DNA for entire genome sequencing will be recovered from the DNA repository. Illumina HiSeq 2000;, Illumina HiSeq 2500; 155 cram
EGAD00001003168 The blood samples of eight lung cancer patients and one benign lung tumor patient are collected for this dataset. Blood samples were centrifuged first at 1,600 × g for 10 minutes, and then the plasma was transferred into new micro tubes and centrifuged at 16,000 × g for another 10 minutes. The plasma was collected and stored at -80⁰C. CfDNA was extracted from 5 ml plasma using the Qiagen QIAamp Circulating Nucleic Acids Kit and quantified by Qubit 3.0 Fluoromter (Thermo Fisher Scientific). Bisulfite conversion of cfDNA was performed by using EZ-DNA-Methylation-GOLD kit (Zymo Research). After that, Accel-NGS Methy-Seq DNA library kit (Swift Bioscience) was used to prepare the sequencing libraries. The DNA libraries were then sequenced with 150bp paired-end reads. HiSeq X Ten;ILLUMINA 9
EGAD00001001331 The aim of this work is to apply an integrated systems approach to understand the biological underpinnings of large joint (hip and knee) osteoarthritis which culminates in the need for total joint replacement (TJR). In this pilot we will assess the feasibility of the approach in the relevant tissue. We will obtain diseased and non-diseased tissue (cartilage and endochondral bone) following TJR, coupled with a blood sample, from 12 patients. We will characterise the 12 pairs of diseased and non-diseased tissue samples in terms of transcription (RNASeq) The pilot will help assess the feasibility of isolating sufficient levels of starting material for the different approaches, and will instigate the development of analytical approaches to synthesising the resulting data. Illumina HiSeq 2000; 24 cram
EGAD00001001393 The aim of this study is to assess translational changes in macrophages over a time course of Salmonella infection. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 52 cram
EGAD00001001319 The aim of this study is to ascertain whether leukaemic mutations exist within the blood of people with otherwise normal haematopoeisis. To satisfy this aim we plan to look for 7 known leukaemic mutations in the whole blood DNA of a large cohort of blood donors who have normal haematopoesis. Genomic regions around mutational sites have been amplified using a 2 step PCR process which involves barcoding of individual patients Illumina MiSeq; 5,817 cram
EGAD00001000421 The aim of this project is to identify rare variants in the 1q region associated with type 2 diabetes. To this end 651 case samples and 651 control samples from six populations have been pooled (pool sizes range from 27-33 individuals), and are being sequenced. The hybridization solution being used captures the exons and UTRs of genes in the 1q region. Illumina HiSeq 2000; 48 bam
EGAD00001000424 The aim of this project is to identify rare variants in the 1q region associated with type 2 diabetes. To this end 651 case samples and 651 control samples from six populations have been pooled (pool sizes range from 27-33 individuals), and are being sequenced. The hybridization solution being used captures the exons and UTRs of genes in the 1q region. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 23 bam
EGAD00001002195 The aim of this project is to identify rare genetic variants of large effect implicated in complex diseases by focusing on the study of cardiovascular diseases and related quantitative traits in a well characterized isolated population in Cilento area, Italy. The reference panel has been selected carefully in order to maximize the imputation coverage and quality on the all population samples. The selected individuals should meet three criteria: selected individuals should be chip-genotyped and closely related to the maximum number of chip-genotyped individuals so as to maximize imputation coverage; relatedness between selected individuals should be minimal, so as to minimize redundancy in genetic information of the reference panel. We perform exome sequencing on samples from 250 individuals from the Campora and Gioi-Cardile populations. Illumina HiSeq 2000; 247 cram
EGAD00001001216 The aim of this project is to genotype and sequence single spermatozoa from two men, one in his twenties and the other in his seventies. The resulting data is used to quantify the mutations that have arisen in the gametes of both individuals in order to better understand the effect of aging on mutation rates and modes. Project Outline. In order to quantify mutations, semen from two individuals are sequenced. 48 single sperm cells are isolated from each individual, and their DNA is extracted. The resulting genomes are amplified using PicoPlex, GenomiPhi MDA, Repli-G MDA, and MALBAC. QC step is applied to check the quality of WGA DNA using standard Sequenom plex (26 SNPs). A subset of 32 amplification products which pass the intiall QC, are genotyped using Affymetrix SNP6 chips. 12 of the genotyped amplification products are also sequenced. In addition, one multi-cell sample per individual is sequenced as a reference and for validation purposes. Altogether, 12 single cell sperm genomes and two multi-cell genomes are sequenced, coming to a total of 14 genomes. Of the single cell sperm genomes, 2 are sequenced to 50x coverage, and the other 10 to 25x coverage. Both multi-cell genomes are sequenced to 25x coverage. Illumina HiSeq 2000; 12 cram
EGAD00001003564 The aim of the project is the definition of the molecular defect in a cohort of Rett-like patients negative for mutations in known disease genes. To this aim, a number of unrelated trios (patients plus parents) will be analysed by exome sequencing. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-16. Illumina HiSeq 2500;ILLUMINA 46
EGAD00001000423 The aim is to find rare variants of intermediate penetrance in those at risk of Crohn's disease Illumina Genome Analyzer II; 10 bam
EGAD00010001131 The 100 European-descent (EUB) and 100 African-descent (AFB) Belgians studied were genotyped for a total of 4,301,332 SNPs on the Illumina HumanOmni5-Quad BeadChips. Whole-exome sequencing was carried out for the same 200 individuals with the Nextera Rapid Capture Expanded Exome kit, on the Illumina HiSeq 2000 platform, with 100-bp paired-end reads. This kit delivers 62 Mb of genomic content per individual, including exons, untranslated regions (UTR), and microRNAs. Omni5 and exome datasets were merged, yielding a concordance rate between platforms of 99.93%. Illumina HumanOmni5-Quad and exome sequencing 200
EGAD00001001222 TGCT Whole Exome Sequencing data Illumina HiSeq 2500; 84 bam
EGAD00010001249 TGCT - GWAS loci Hi-C data Illumina HiSeq 2000 1
EGAD00001000354 Testing the feasibility of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using targeted pulldown capture prior to Illumina sequencing. Illumina HiSeq 2000; 81 bam
EGAD00001001448 Testing the feasibility of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using targeted pulldown capture prior to Illumina sequencing. Illumina MiSeq; 11 bam
EGAD00001000255 Testing the feasibility of genome scale sequencing in routinely collected FFPE cancer specimens versus matched fresh frozen samples Illumina HiSeq 2000; 32 bam
EGAD00001000870 Testing logistics and infrastructure of molecular screening program. Core biopsies taken from invasive recurrent or metastatic breast cancer to evaluate and identify molecular traits rendering them suitable for clinical trials Illumina HiSeq 2500; 52 cram
EGAD00001001920 TEST3 dataset containing 1 FASTQ file with mRNA reads. Illumina HiSeq 2500; 1 fastq
EGAD00001003187 TBD Complete Genomics;COMPLETE_GENOMICS 9
EGAD00001001236 Targetted capture and resequencing of 94 known myeloid genes across MPN trials (PT1 and Voriconazole study) and other MPN samples. Illumina HiSeq 2000; 1,860 cram
EGAD00001001916 Targeted sequencing using SPET for Mesothelioma. Illumina HiSeq 2000; 207 fastq
EGAD00001001937 Targeted sequencing of 48 amplicons in TP53, PTEN, EGFR, PIK3CA, KRAS and BRAF genes was performed as described previously [Forshew, STM 2012]. All libraries were pooled and quantify using DNA 1000 kit on Agilent 2100 Bioanalyzer and KAPA SYBR FAST ABI Prism qPCR Kit (KAPA Biosystems) on 7900HT Fast Real-Time PCR System (Applied Biosystems) according to the supplier's recommendations. Reads were aligned using bwa-mem v0.7.12-r1039 to the 1000 genomes version of human genome build GRCh37, retaining duplicate reads. Illumina MiSeq; 66 bam
EGAD00001002115 Targeted sequencing of 173 genes in 2433 primary breast tumours. Data includes 2433 tumour samples, 523 adjacent normal (breast) samples and 127 blood samples. Libraries were prepared with Illumina's Nextera custom enrichment kit targetting all the exons of the most frequently mutated breast cancer genes. Libraries were multiplexed (48 libraries per lane) and sequenced on Illumina HiSeq 2000 (100bp paired-end reads). Somatic mutations were calling with a custom pipeline. We identified 40 mutation-driver (Mut-driver) genes, and determined associations between mutations, driver CNA profiles, clinical-pathological parameters and survival. We assessed the clonal states of Mut-driver mutations, and estimated levels of intra-tumour heterogeneity using mutant-allele fractions. The results emphasize the importance of genome-based stratification of breast cancer, and have important implications for designing therapeutic strategies. Referece: Pereira et al. (2016) The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. Nature Communications 3,083 bam,bai
EGAD00001001215 Targeted sequencing follow-up of genomic lesions in multiple myeloma. Illumina HiSeq 2000; 424 cram
EGAD00001000727 Targeted resequencing on the specific regions chr3:126036241-130672290 and chr3:157712147-175694147 in hg19 centered on the chromosomal regions 3q21 and 3q26 respectively. The focus lies on the detection of the exact breakpoints in Acute Myeloid Leukemia (AML) patients having acquired a inv(3)(q21q26) or t(3;3)(q21;q26). This dataset contains all information to detect all structural variants contained within these regions, including the 3q-aberrations inducing the overexpression of the proto-oncogene EVI1. Illumina HiSeq 2500; 38 fastq
EGAD00001003275 Targeted resequencing of samples was done with TruSeq custom amplicon low input kit (TSCA-LI, Illumina). The oligo capture probes were designed to include a prefix of 8 random nucleotides at the 5 end of each probe. The assay is designed such that each targeted locus is annealed with two probes, resulting in amplicons tagged with unique molecular identifiers (UMI) (22) of 16 bases. Raw FASTQ sequencing files were processed as following: (a) The first 8 bases were trimmed from each read and recorded with the corresponding base quality scores (BQ) in the attribute field. (b) Reads were aligned with BWA. (c) First round of PCR duplicate cleaning was performed with picard tools markDuplicates using the parameters BARCODE_TAG=BC TAGGING_POLICY=All REMOVE_DUPLICATES=true (d) Since in the previous step only duplicate reads with identical UMIs were removed, a second pass of filtering was done. Reads with identical mapping were considered unique only if their corresponding UMIs were different in at least 3 positions (i.e., UMI edit distance > 2). (e) Paired-end read pairs overlapping genomic positions were clipped to avoid overestimation of the sequencing coverage using bamUtils clipOverlap. NextSeq 550;ILLUMINA 74
EGAD00001003217 Targeted resequencing at high depth (21 genes, 9 chromosomal regions): at least 4 FFPE samples per case and matched germline DNA: * 100 cases with detailed outcome data, including 15 cases with tumour relapse (515 samples) * 40 cases with matched pre-chemotherapy biopsies (240 samples) * 50 nephrogenic rests matched to above cases (50 samples) We expect a proportion (possibly 10%) of cases to be mutationally silent on the above studies, and propose to subsequently carry out integrated whole-genome, methylome and transcriptome studies on matched frozen tissue from these cases Illumina HiSeq 2500;ILLUMINA 35
EGAD00001000150 Targeted re-sequencing of 97 genes in T-ALL 454 GS FLX Titanium 33 sff
EGAD00001002180 Targeted pulldown of genes known to be recurrently mutated in AML & MDS from patient and normal samples using Agilent Sureselect and for some cases also using Illumina Truseq technology. Illumina HiSeq 2000; 288 cram
EGAD00001000882 Targeted genome sequences of the human X chromosome in 4 colorectal adenomas and 4 matched normal tissues from male patients Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 8 bam
EGAD00001003253 Targeted gene screen of cell line tumour samples for testing the new V2 Colorectal gene panel. Illumina HiSeq 2000;ILLUMINA 57
EGAD00001001047 Targeted exome sequencing of 375 genes Illumina HiSeq 2500; 31 fastq
EGAD00001003334 Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases. This dataset contains all the data available for this study on 2017-05-11. Illumina HiSeq 2000;ILLUMINA 573
EGAD00001001872 Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases. This dataset contains all the data available for this study on 2016-01-06. Illumina HiSeq 2000; 333 cram
EGAD00001003118 Targeted capture sequencing for cases with MDS who were subjected to unrelated bone marrow transplantation via Japan marrow donor program 797
EGAD00001000998 Targeted capture of exonic and intronic regions of interest for the study of genomic alterations in multiple myeloma. Illumina HiSeq 2000; 24 cram
EGAD00001001208 Targeted capture of cancer gene panel bait set in single cell derived organoids from colon tissue and colorectal cancer from 1 patient. Illumina HiSeq 2000;, Illumina HiSeq 2500; 105 cram
EGAD00001001427 Targeted cancer gene sequencing of samples enrolled in the SSGXVIII trial from Finland. Illumina HiSeq 2000; 312 cram
EGAD00010000868 Targeted bisulfite sequencing Illumina Bisulfite-Sequencing 16
EGAD00001000050 Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes Illumina Genome Analyzer II 13 bam
EGAD00001001676 Tagmentation-based whole-genome bisulfite sequencing of isolated cell types from healthy controls. Illumina HiSeq 2000; 12 fastq
EGAD00000000030 T1DGC project 1958 British Birth Cohort samples Illumina HumanHap 550 2,604
EGAD00001003337 T cells isolated from peripheral blood, tumors and adjacent normal tissues from six hepatocellular carcinoma patients. SmartSeq2 and Tang2009 protocol were used to amplify RNA from single T cells. High depth enables simultaneously expression profiling and TCR assembling. Illumina HiSeq 2500 (ILLUMINA), Illumina HiSeq 4000 (ILLUMINA) 5,063
EGAD00001003321 Systematic next generation sequencing efforts are beginning to define the genomic landscape across a range of primary tumours, but we know very little of the mutational evolution that contributes to disease progression. We therefore propose to obtain a comprehensive description of genomic, transcriptomic and epigenomic changes in a cohort of matched primary and metastatic colorectal cancers, and additionally to explore the extent to which those mutations identified as recurrent in the metastatic setting are able to subvert normal biological processes using both genetically engineered mouse models and established cancer cell lines. This study will enable us to define to what extent primary tumour profiling can capture the biological processes operative in matched metastases as well as the significance of intratumoural heterogeneity. This dataset contains all the data available for this study on 2017-05-04. Illumina HiSeq 2000;ILLUMINA 523
EGAD00001001426 Systematic next generation sequencing efforts are beginning to define the genomic landscape across a range of primary tumours, but we know very little of the mutational evolution that contributes to disease progression. We therefore propose to obtain a comprehensive description of genomic, transcriptomic and epigenomic changes in a cohort of matched primary and metastatic colorectal cancers, and additionally to explore the extent to which those mutations identified as recurrent in the metastatic setting are able to subvert normal biological processes using both genetically engineered mouse models and established cancer cell lines. This study will enable us to define to what extent primary tumour profiling can capture the biological processes operative in matched metastases as well as the significance of intratumoural heterogeneity. This dataset contains all the data available for this study on 2015-07-02. Illumina HiSeq 2000; 446 cram
EGAD00001001095 Supporting data for ICGC PACA-CA Release 18 Illumina HiSeq 2000;, Illumina HiSeq 2500; 506 bam,fastq
EGAD00010000819 Summary statistics from meta-analysis for BP phenotypes 0
EGAD00010000300 Summary statistics from Haemgen RBC GWAS Illumina, Affymetrix, Perlegen 1
EGAD00010001081 Summary statistics for Malaria Genomic Epidemiology Network, "A novel locus of resistance to severe malaria in a region of ancient balancing selection", Nature (2015) Illumina Omni 2.5M 11,657
EGAD00010001029 Summary statistics for a multi-cohort epigenome-wide association study. This includes summary statistics (effect-size, standard error, p-value) for 470,000 methylation markers. 0
EGAD00010001141 Summary data from Meta-analysis of Genome-Wide-Association Studies for plasma levels of Coagulation Factor XI (FXI) 0
EGAD00000000115 Summary data from GWAS analysis on 856 cases and 2836 control Illumina CytoSNP-12 3,719
EGAD00010000744 Subset 2 of osteoarthritis cases genotyped on Illumina 610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with consent for osteoarthritis studies only. 2,326
EGAD00010000927 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-24v1-0 with consent for osteoarthritis studies only. Illumina HumanCoreExome-24v1-0 248
EGAD00010000924 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-1 with consent for osteoarthritis studies only. Illumina HumanCoreExome-12v1-1 991
EGAD00010000923 Subset 2 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-0 with consent for osteoarthritis studies only. Illumina HumanCoreExome-12v1-0 463
EGAD00010000742 Subset 1 of osteoarthritis cases genotyped on Illumina610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with broader consent. 5,383
EGAD00010000922 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-24v1-0 with broader consent. Illumina HumanCoreExome-24v1-0 494
EGAD00010000926 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-1 with broader consent. Illumina HumanCoreExome-12v1-1 3,075
EGAD00010000925 Subset 1 of osteoarthritis cases from the arcOGEN Consortium (http://www.arcogen.org.uk/) genotyped on HumanCoreExome-12v1-0 with broader consent. Illumina HumanCoreExome-12v1-0 855
EGAD00001000158 Subgroup-specific structural variation across 1,000 medulloblastoma genomes 23 bam
EGAD00001003240 Study of cell lineage and embryogenesis using biopsy samples from sites across the whole body (post mortem). Sample donors are recruited sensitively through the Phoenix study and consent to samples being taken after their death for both the Phoenix study and this WTSI study. HiSeq X Ten;ILLUMINA 33
EGAD00001003754 structural variant calls from Delly, vcf format 37
EGAD00001003448 strand-specific RNA-seq data from 19 gastric tumors and their adjacent normal tissues, plus 16 gastric cancer cell lines, one normal gastric cell line, and 3 normal stomach RNAs Illumina HiSeq 2500;ILLUMINA 58
EGAD00001001227 Strand-specific mRNA-Seq assays for reference epigenomes generated by Centre for Epigenome Mapping Technologies at Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. 32 bam
EGAD00001000081 Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing Illumina HiSeq 2000 1 bam
EGAD00001002730 SPEED - childhood dystonia KMT2B dataset Illumina HiSeq 2000;ILLUMINA 5
EGAD00001000894 SPECTA comprises a network of participating European clinical sites and NGS screening platforms that can screen individual patients for multiple molecular targets and potentially allow the design of trials that will match the specific biology of the diseases affecting specific patients with cancer. Illumina HiSeq 2500; 64 cram
EGAD00001002650 Somatic variants called from whole-exome sequencing of meningioma-blood pairs 87 vcf
EGAD00001003823 Somatic mutations were called using whole exome Sequencing (WES) data from colorectal cancer samples (dataset EGAD00001003821) using MuTect2, with matched constitutional WES-data obtained from leukocytes samples as reference. 37
EGAD00001000045 Somatic mutation of SF3B1 in myelodysplasia with ring sideroblasts and other cancers Illumina Genome Analyzer II, Illumina HiSeq 2000; 33 bam,cram,srf
EGAD00001000085 Somatic Histone H3 mutations Illumina HiSeq 2000 14
EGAD00010000608 SNP6 data for seminoma samples 8
EGAD00010000606 SNP6 data for matched normal samples 8
EGAD00010000702 SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015) 0
EGAD00010000560 SNP array of 7 HCCs and matched background liver in children with bile salt export pump deficiency Illumina HumanOmniExpress-12 v1. 14
EGAD00010001281 SNP array dataset HUMANOMNIEXPRESS 50
EGAD00010000622 SNP array data for gastric cancer cell lines unknown 30
EGAD00010000951 SNP array data for 668 cancer cell lines Illumina 2.5M 668
EGAD00010000526 SNP 6.0 arrays of small cell lung cancer Affymetrics_SNP_6.0- 63
EGAD00010000554 SNP 6.0 arrays of small cell lung cancer 1,032
EGAD00010000556 SNP 6.0 arrays of small cell lung cancer 0
EGAD00010000558 SNP 6.0 arrays of small cell lung cancer Affymetrix SNP 6.0 54
EGAD00010000546 SNP 6.0 arrays of carcinoid samples Affymetrics_SNP_6.0- 74
EGAD00001001226 smRNA-Seq assays for reference epigenomes generated by Centre for Epigenome Mapping Technologies at Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Canada as part of the International Human Epigenome Consortium. 28 bam
EGAD00001000611 Small RNA sequencing of 28 untreated prostate cancers, 12 castration resistant prostate cancers, and 3 benign prostatic hyperplasias. Illumina HiSeq 2000; 43
EGAD00001003230 Small RNA expression profiles of the blood plasma-derived exosomes from B-cell chronic lymphocytic leukemia patients Illumina HiSeq 2000;ILLUMINA 3
EGAD00001000794 Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT patients in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors, but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis. Illumina HiSeq 2000; 11 bam
EGAD00001000850 Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT patients in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors, but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis. Illumina HiSeq 2000; 19 bam
EGAD00010000859 Smad3 Illumina ChIP-Sequencing 16
EGAD00010000462 SJLGG Case samples using Gene Expression Array Affymetrix_U133v2 75
EGAD00001002254 Single-end sequencing data (trimmed to 60bp) of 104 plasma samples from donors without tumors (male=50; female=54) were merged and used to establish coverage profiles around the TSS and to establish a gene expression prediction algorithm. Dataset includes merged alignements of low coverage whole genome sequencing from plasma DNA from 50 male, 54 female non-cancer donors. Furthermore, 2 patients with metastasized breast cancer were sequenced on a NextSeq with higher depth. Illumina MiSeq; 3 bam
EGAD00001002190 Single-end BAM files of the targeted deep sequencing analysis of several mtDNA candidate regions in blood and buccal-derived DNA of the corresponding twin pairs. Illumina MiSeq; 140 bam
EGAD00001002249 Single-Cell RNA Sequencing of 355 cells isolated from 7 tissue fragments of 3 patients corresponding to locally adjacent tumor, multifocal with recurrence and sections segregated by a marker of tumor cellularity (5-ALA). Illumina HiSeq 2500; 355
EGAD00001000154 Single-cell genome sequencing reveals DNA-mutation per cell cycle Illumina HiSeq 2000, Illumina Genome Analyzer II 12 bam,srf
EGAD00001003753 single nucleotide variant calls from somatic sniper, vcf format. input for subclonal reconstruction 20
EGAD00001003752 single nucleotide variant calls from somatic sniper, vcf format 34
EGAD00001000680 Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524 AB SOLiD 4 System; 300 bam
EGAD00010001315 Single cell transcriptomics of PBMCs of 47 donors from the Lifelines Deep cohort (general population, Northern part of the Netherlands). Cells of five or six different donors were pooled together in one sample pool, resulting in eight different sample pools. In total, 28.855 cells were captured and their transcriptomes were sequenced to an average depth of 74k. Genotype data was available for each donor, which allowed us to use the Demuxlet method that uses variable SNPs between the pooled individuals to determine which cell belongs to which individual. Since genotype information is lacking of 2 individuals, the transcriptome of only 45 individuals could be retrieved. Illumina HiSeq4000 45
EGAD00001002193 Single case of T-ALL carrying t(4;6), a novel translocation. Illumina HiSeq 2000; 1 cram
EGAD00000000047 Signal data for from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples Affymetrix 6.0 4
EGAD00001000847 Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing. Illumina HiSeq 2000; 2 cram
EGAD00000000018 Severe malaria cases from Gambia 0
EGAD00001003436 Seven files of patients 3, 21, 29, 30, 31, 32 and 33 with WGS done on Illumina MiSeq with high coverage. For research purpose and authorised user only. Illumina MiSeq;ILLUMINA 7
EGAD00001003746 Sequencing was performed using OncoPanel v.2 (OPv2), an Agilent SureSelect custom designed bait set consisting of the coding regions of 504 genes, previously linked to human cancer. Sequencing wa sperformed on an Illumina HiSeq 2500. 14 highly differentiated, fusion-negative rhabdomyosarcoma tumor samples, and 8 non-matched normal skeletal muscle samples weer sequenced. BAM files are available for download. Illumina HiSeq 2500;ILLUMINA 22
EGAD00001003153 Sequencing of untreated pancreatic cancer metastases and primary tumor sections. Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 49
EGAD00001002184 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2 cram
EGAD00001002199 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2 cram
EGAD00001003252 Sequencing of drug resistant organoids Illumina HiSeq 2000;ILLUMINA 36
EGAD00001001010 Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2 Ion Torrent Proton; 8 bam
EGAD00001003748 Sequencing of B-cell receptor repertoires in healthy individuals and patients with chronic lymphocytic leukemia. 1) This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-09-13. Illumina MiSeq;ILLUMINA 387
EGAD00001000812 Sequencing of 350 cancer genes in BC samples from patients treated with either Epirubicin or Paclitaxel monotherapy in the neoadjuvant setting. Illumina HiSeq 2000; 364 cram
EGAD00000000048 Sequencing data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample Illumina Genome Analyzer II 1
EGAD00000000052 Sequencing data from natching Pancreatic Carcinoma samples Illumina Genome Analyzer II 25
EGAD00000000051 Sequencing data from matching Renal Carcinoma samples Illumina Genome Analyzer II 25
EGAD00000000053 Sequencing data from Breast Cancer samples Illumina Genome Analyzer II 1
EGAD00001000371 Sequencing data for PDAC cell lines generated by QCMG Illumina HiSeq 2000;, Illumina HiSeq 2500; 54 bam
EGAD00001002241 Sequencing data for ICGC Oesophageal Adenocarcinoma tissue samples - chemo_cohort Illumina HiSeq 2000; 270
EGAD00001002260 Sequencing data for ICGC Oesophageal Adenocarcinoma tissue samples - 129_rnaseq EAC expression data - Publication Secrier & Li et al., 2016, Nature Genetics Illumina HiSeq 2000; 15
EGAD00001002218 Sequencing data for ICGC Oesophageal Adenocarcinoma tissue samples - 129_cohort EAC whole genomic sequencing data - Publication Secrier & Li et al., 2016, Nature Genetics Illumina HiSeq 2000; 258 bam
EGAD00001002255 Sequencing Data for DEEP Paper: "reChIP-seq reveals widespread bivalency of H3K4me3 and H3K27me3 in CD4+ memory T-Cells" Sample: 51_Hf01_BlCM_Ct (human, female, Blood, CD4+ central memory cell, normal control) Sequencing types are: total RNA, Whole Genome Bisulfite, ChipSeq (H3K27ac, H3K9me3, H3k36me3, H3K4me1, H3k27me3, H3K4me3, Input), reChipSeq (H3K27me3, H3K4me3) 1 readme_file,bam
EGAD00001000323 Sequencing data for Australian Pancreatic Cancer study submitted 20130102 AB SOLiD 4 System;, Illumina HiSeq 2000; 200 bam
EGAD00001000293 Sequencing data for Australian Ovarian Cancer study submitted 20121116 AB SOLiD 4 System; 72 bam
EGAD00001000124 Sequencing Acute Myeloid Leukaemia Illumina HiSeq 2000, Illumina HiSeq 2000; 4 bam
EGAD00001000134 Sequence reads for pediatric GBM samples for manuscript: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma Illumina HiSeq 2000, Illumina HiSeq 2500; 54 fastq
EGAD00001001865 Sequence Data of total RNA, miRNA, WGB, mRNA, NOMe, Chip (H3K27ac,H3K27me, H3K36me3, H3K4me1, H3K4me3, H3K9me3, Input) Short Desrciption: Epigenetic profiling of human CD4+ memory T cells reveals their proliferative history and argues in favor of a progressive differentiation model driven by epigenetically controlled master regulators. Illumina HiSeq 2000; 21 readme_file,fastq,bam
EGAD00001003421 Sequence data of 28 Samples (19 chronic lymphocytic leukemia, 9 control) Including RNA-Seq and ChIP-Seq of following histone modifications: H3, H3K4me1, H3K4me3, H3K9ac, H3K9me3, H3K27ac, H3K27me3, H3K36me3 Project see: http://www.cancerepisys.org/ 28
EGAD00001002203 Sequence data is from 4 samples from an adult patient with TCF3-PBX1 t(1;19)-positive acute lymphoblastic leukemia. Exome sequencing was performed on a skin biopsy (normal tissue control) and leukemic bone marrow biopsies taken at diagnosis and at two relapse time points. RNA-sequence data is from leukemic bone marrow from two relapse biopsies. Illumina HiSeq 2500; 4 fastq,bam
EGAD00001001618 Sequence data from two medullary thyroid carcinoma patients: WGS datasets generated from tumors and matched normal tissues and RNA-Seq from tumors are included. Illumina HiSeq 2000;, Illumina HiSeq 2500; 6 bam
EGAD00001001314 Sequence data from L1-amplicon libraries prepared from plasma-DNA from a set of 24 female controls and 18 male controls without malignant disease and samples from patients breast (n= 28) and prostate cancer patients (n=61). Illumina MiSeq; 125 fastq
EGAD00001003341 Sequence data from fungal infection isolated from neural tissue in ALS patients. Illumina MiSeq;ILLUMINA 34
EGAD00001001115 SeqControl Illumina HiSeq 2500; 54 fastq
EGAD00001002724 September 2016 data update (bam/fastq/vcf) for reference epigenomes generated at Centre for Epigenome Mapping Technologies (Canadian Epigenetics, Environment and Health Research Consortium), Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2500;ILLUMINA 24 fastq,vcf,bam
EGAD00001003145 Sensory neurons are nerve cells that are activated by sensory input such as heat, light and convey information to the brain. Although a key cell type in complex organisms, human sensory neurons are challenging to study because they are impossible to obtain from living donors. We have collaborated with the Neucentis Pharmaceutical Research Unit to differentiate sensory neuron like cells from human induced pluripotent stem cells derived as part of the Human Induced Pluripotent Stem Cells Initiative. We will sequence RNA from 100 IPS lines derived from healthy individuals and perform RNA-seq on the differentiated cells to identify noncoding variants that alter gene expression in human sensory neurons. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2000;ILLUMINA 123
EGAD00010000440 Segmented copy number data Affymetrix_SNP6_raw 1,302
EGAD00010000217 Segmented (HMM) copy number aberrations (CNA); discovery set Affymetrix SNP 6.0 997
EGAD00010000216 Segmented (CBS) copy number variants (CNV); validation set Affymetrix SNP 6.0 995
EGAD00010000214 Segmented (CBS) copy number variants (CNV); discovery set Affymetrix SNP 6.0 997
EGAD00010000215 Segmented (CBS) copy number aberrations (CNA); validation set Affymetrix SNP 6.0 995
EGAD00010000213 Segmented (CBS) copy number aberrations (CNA); discovery set Affymetrix SNP 6.0 997
EGAD00010000913 SEA 660K Illumina 660K 3
EGAD00010000912 SEA 610K Illumina 610K 1
EGAD00001000059 Screening for human epigenetic variation at CpG islands Illumina Genome Analyzer II 116 bam
EGAD00001000213 Screening for abnormal CGI methylation in primary colorectal tumours Illumina Genome Analyzer II; 21 bam
EGAD00010000594 SCOOP severe early-onset obesity cases 1,720
EGAD00010000276 SCLC tumor genotypes Illumina_2.5M 56
EGAD00010000278 SCLC matched normal genotypes Illumina_2.5M 51
EGAD00001000703 SCLC - Whole genome sequencing data Publication Peifer et al., 2012, Nature Genetics Illumina Genome Analyzer IIx; 29 bam
EGAD00001001431 SCLC - RNA sequencing data Publication Peifer et al., 2012, Nature Genetics Illumina HiSeq 2000; 15 fastq
EGAD00001000107 SCAT osteosarcoma sequencing Illumina HiSeq 2000, Illumina Genome Analyzer II 114 bam
EGAD00001001375 Samples will be from the BRF113683 (BREAK-3) study which is a Phase III Randomized, Open-label Study Comparing GSK2118436 to Dacarbazine (DTIC) in Previously Untreated Subjects With BRAF Mutation Positive Advanced (Stage III) or Metastatic (Stage IV) Melanoma (n=250 enrolled) *NGS [Agilent capture (Sanger V2 panel): 360 genes and 20 gene fusions; Illumina HiSEQ Sequencing] *CNV: [via NGS or Affy SNP 6.0 or Illumina Omni (TBD)] Bioinformatics: Analysis will be performed using core Sanger informatics pipelines similar to those previously described (Papaemmanuil E et al. (2013) Blood. 22:3616 -3627). Briefly, copy number analysis will be performed using the ASCAT algorithm, and base substitutions, small insertions and deletions using the CAVEMAN and Pindel algorithms, respectively. Statistical approaches including generalized linear models will be used to predict clinical variables such as maximum clinical response and duration of response using genetic data. Sanger and EBI to conduct analysis; Raw data and correlation with clinical endpoints to be analyzed by both EBI/Sanger and GSK (unique pipeline analyses to increase call confidence) Illumina HiSeq 2500; 169 cram
EGAD00010000920 samples using Illumina HUMANOMNIEXPRESS HUMANOMNIEXPRESS 50
EGAD00010000919 samples using Illumina HUMANOMNI1QUAD HUMANOMNI1QUAD 2
EGAD00010000886 samples using Affymetrix HG_U133_+2 Affymetrix HG_U133_+2 99
EGAD00010000921 samples using Affymetrix CYTOSCANHD CYTOSCANHD 12
EGAD00001003579 Samples prepared using Safe-SeqS technology. All samples ran on an Illumina MiSeq instrument. Fastq files for read 1 and the index read present (R and I respectively). Illumina MiSeq;ILLUMINA 49
EGAD00000000060 Samples from the UK Glomerulonephritis DNA bank Illumina 610K Quad, Illumina Hap300 1,705
EGAD00010000516 Samples from the Pomak Villages in Greece, Pomak isolate HumanExome_12v1.1_A -GenCall, zCall 1,046
EGAD00010000522 Samples from the Greek island of Crete, MANOLIS cohort HumanOmniExpress-12 v1.1 BeadChip-GenCall 1,364
EGAD00010000610 Samples from the Greek island of Crete, MANOLIS cohort 221
EGAD00010000518 Samples from the Greek island of Crete, MANOLIS cohort HumanExome_12v1.1_A -GenCall, zCall 1,280
EGAD00001001071 Samples from the "100" project that are in the ICGC PanCancer project. Illumina HiSeq 2000; 200 bam
EGAD00001001394 Samples from Ross Innes et. al 2015 - doi:10.1038/ng.3357 Illumina HiSeq 2000; 101 bam
EGAD00001001048 Samples from Edwards et al 2015 - doi:10.1186/s12864-015-1685-z Illumina HiSeq 2000 (ILLUMINA) 86 bam
EGAD00010000943 Sahel population study using 2.5M Illumina HumanOmni2.5 161
EGAD00010000901 Russian Tuberculosis samples using Affymetrix 6.0 Affymetrix Genome-Wide Human SNP Array 6.0 Genotypes 11,937
EGAD00001003133 RRBS data of 86 Ewing patients (French). Illumina HiSeq 2000/2500 (Fastq files available). Sheffield et al. Nat Med. 2017 Jan 30 Illumina HiSeq 2000;ILLUMINA 86
EGAD00001001443 RNASeq sequencing. Each library was sequenced using TruSeq SBS Kit v3-HS, in paired-end mode with a read length of 2 × 76 bp. We generated more than 20 million paired-end reads for each sample in a fraction of a sequencing lane on HiSeq2000 (Illumina Inc.) following the manufacturer’s protocol. Image analysis, base calling and quality scoring of the run were processed using the manufacturer’s software Real Time Analysis (RTA 1.13.48) and followed by generation of FASTQ sequence files. Illumina Genome Analyzer II; 199 fastq
EGAD00001000248 RNAseq Pulldown Illumina HiSeq 2000; 6 bam
EGAD00001001212 RNAseq profile of purified plasma cells from multiple myeloma patients and tonsils of healthy donors Illumina HiSeq 2000; 15 fastq
EGAD00001002074 RNAseq on Illumina HiSeq2000/2500 of WNT reporter of PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 3
EGAD00001002081 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 4
EGAD00001003368 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002078 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 28
EGAD00001002884 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample at early/late passages Illumina HiSeq 2000;ILLUMINA 8
EGAD00001003365 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 1
EGAD00001002073 RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 12
EGAD00001002079 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 1
EGAD00001002075 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from PDO culture derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 1
EGAD00001002883 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer sample of a validation cohort of 60 PDX Illumina HiSeq 2000;ILLUMINA 60
EGAD00001003369 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 13
EGAD00001003362 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (EPO2_cohort) Illumina HiSeq 2000;ILLUMINA 49
EGAD00001002080 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample Illumina HiSeq 2000; 37
EGAD00001003366 RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 10
EGAD00001003367 RNAseq on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 7
EGAD00001002077 RNAseq on Illumina HiSeq2000/2500 of colorectal cancer primary tumor sample Illumina HiSeq 2000; 87
EGAD00001003364 RNAseq on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample (OT2_cohort) Illumina HiSeq 2000;ILLUMINA 4
EGAD00001002072 RNAseq on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample Illumina HiSeq 2000; 23
EGAD00001002076 RNAseq of Patient-derived xenograft derived from colorectal cancer metastasis sample Illumina HiSeq 2000; 19
EGAD00001003316 RNAseq of LC2AD with AD80 or DMSO Plenker et al., Mechanistic insight into RET kinase inhibitors targeting the DFG-out conformation in RET-rearranged cancer Illumina HiSeq 2000;ILLUMINA 1
EGAD00001003399 RNAseq dataset of 34 samples (6 normals, 7 stroma-enriched, 21 malignant cells-enriched) from patients with resected pancreatic ductal carcinoma. Illumina HiSeq 4000;ILLUMINA 34
EGAD00001000716 RNAseq data, Publication Fernandez-Cuesta et al., 2014, CD74-NRG1 fusions in lung adenocarcinoma Illumina HiSeq 2000; 25 fastq
EGAD00001003099 RNAseq data set (Mollaoglu et al., MYC drives progression of small cell lung cancer to a variant neuroendocrine subtype with vulnerability to Aurora kinase inhibition) Illumina HiSeq 2000;ILLUMINA 14
EGAD00001003428 RNAseq data from the study: "Widespread DNA hypomethylation and differential gene expression in Turner syndrome". Illumina HiSeq 2000;ILLUMINA, NextSeq 500;ILLUMINA 37
EGAD00001002691 RNAseq data for 10 patients: 10 tumors and 10 cell lines NextSeq 500;ILLUMINA 20
EGAD00001001087 RNAseq BAM files for the Skin samples of the EUROBATS project. 672 bai,bam
EGAD00001001089 RNAseq BAM files for the Fat samples of the EUROBATS project 685 bai,bam
EGAD00001001088 RNAseq BAM files for the blood samples of the EUROBATS project 391 bai,bam
EGAD00001001013 RNAseq and exome sequencing data of gastric cancer cell lines. Illumina HiSeq 2000; 30
EGAD00001001598 RNA-sequencing data from teh hT-RPE-MycER cell line after MYC activation and after MINCR knock-down in conditions of MYC ON or OFF Illumina HiSeq 2500; 18 fastq
EGAD00001000886 RNA-Sequencing data (raw read sequences) for 23 samples, from 12 patients, for the study "Diverse modes of genomic alterations in Hepatocellular Carcinoma" Illumina HiSeq 2000; 23 fastq
EGAD00001003318 RNA-sequencing alignment for SYSCOL colorectal adenoma-carcinoma samples 314
EGAD00001001244 RNA-sequencing (RNA-seq) was performed with RNA extracted from fresh-frozen human tumor tissue samples. cDNA libraries were prepared from poly-A selected RNA applying the Illumina TruSeq protocol for mRNA. The libraries were then sequenced with a 2 x 100bp paired-end protocol to a minimum mean coverage of 30x of the annotated transcriptome. Illumina HiSeq 2000; 59 fastq
EGAD00001000043 RNA-Seq-Dataset Illumina Genome Analyzer IIx 16 bam
EGAD00001002681 RNA-seq, ChIP-seq, and ATAC-seq files for PCGP SJERG paper titled "Deregulation of DUX4 and ERG in acute lymphoblastic leukemia" Illumina HiSeq 2000 (ILLUMINA) 53
EGAD00001002216 RNA-Seq on an Ion Torrent Proton of corresponding tumor material of two metastasized breast cancer patients (Breast7, Breast13). Ion Torrent Proton; 2
EGAD00001001675 RNA-seq of peripheral blood samples from CLL patients. Illumina HiSeq 2000; 42 fastq
EGAD00001001862 RNA-seq of PDXs Illumina HiSeq 2000; 12 fastq
EGAD00001001626 RNA-Seq Illumina GAII dataset for the TraIT cell-line use case (added reverse and forward reads). Illumina Genome Analyzer II; 6 fastq,bam
EGAD00001001057 RNA-seq from normal human tissues (2 x 75 bp) Illumina HiSeq 2000; 3 fastq
EGAD00001001922 RNA-seq from normal human tissues (2 x 250 bp) Illumina HiSeq 2000; 14 fastq
EGAD00001000675 RNA-seq for monocytes and neutrophils Illumina HiSeq 2000; 12 fastq
EGAD00001003154 RNA-Seq files for SJOS study Illumina HiSeq 2000;ILLUMINA 14
EGAD00001001019 RNA-seq dataset used for the validation of CDK6 cis-regulatory mutation annotated by OncoCis. NB bam files for manuscript A_Proteomic_Chronology_of_Gene_Expression_through_the_Cell_Cycle_in_Human_Myeloid_Leukemia_Cells are now available at the following link:http://www.ebi.ac.uk/ena/data/view/ERP008483 Illumina HiSeq 2000; 1 bam
EGAD00001003780 RNA-seq data obtained from directed differentiation of a subset of FiPSCs and BiPSCs cell lines towards islet-like cells. RNA was collected at two key developmental stages: definitive endoderm (DE) and pancreatic progenitors (PP). Illumina HiSeq 2500;ILLUMINA 16
EGAD00000000049 RNA-SEQ data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample Illumina Genome Analyzer II 1
EGAD00000000046 RNA-SEQ data from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples Illumina Genome Analyzer II 4
EGAD00001002112 RNA-seq data from 195 pediatric BCP-ALL cases. Alignment: TopHat 2.0.7. Reference genome: hg19. Illumina HiScanSQ; 195 fastq
EGAD00001003433 RNA-Seq data for the paper titled "Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors" Illumina HiSeq 2000;ILLUMINA 95
EGAD00001002243 RNA-seq data for patient samples Illumina HiSeq 2500; 2 fastq
EGAD00001001915 RNA-Seq data for Mesothelioma. Illumina HiSeq 2000; 211 fastq
EGAD00001001914 RNA-seq data for mesothelioma cell lines after spliceostatin (SSA) or control (DMSO) treatment. Illumina HiSeq 2000; 12 fastq
EGAD00001002953 RNA-Seq data for 8 sample(s) Acute Lymphocytic Leukemia for precursor B cell from bone marrow, on Genome GRCh38. 8 run(s), 8 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 8 fastq
EGAD00001001191 RNA-Seq data for 8 monocyte sample(s). 8 run(s), 8 experiment(s), 8 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 8 fastq,bam
EGAD00001002358 RNA-Seq data for 8 erythroblast sample(s). 30 run(s), 8 experiment(s), 8 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 8 bam,fastq
EGAD00001002308 RNA-Seq data for 8 CD14-positive, CD16-negative classical monocyte sample(s). 8 run(s), 8 experiment(s), 8 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 8 bam,fastq
EGAD00001001148 RNA-Seq data for 8 CD14-positive, CD16-negative classical monocyte sample(s). 8 run(s), 8 experiment(s), 8 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 8 fastq,readme_file,bam
EGAD00001001506 RNA-Seq data for 8 CD14-positive, CD16-negative classical monocyte sample(s). 8 run(s), 8 experiment(s), 8 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 8 fastq,bam
EGAD00001002323 RNA-Seq data for 7 plasma cell sample(s). 7 run(s), 7 experiment(s), 7 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 7 bam,fastq
EGAD00001000904 RNA-Seq data for 7 mature neutrophil sample(s). 7 run(s), 7 experiment(s), 7 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 7 fastq
EGAD00001001177 RNA-Seq data for 7 erythroblast sample(s). 29 run(s), 7 experiment(s), 7 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 7 fastq,readme_file,bam
EGAD00001001550 RNA-Seq data for 7 erythroblast sample(s). 29 run(s), 7 experiment(s), 7 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 7 fastq,bam
EGAD00001002518 RNA-Seq data for 7 Chronic Lymphocytic Leukemia sample(s). 7 run(s), 7 experiment(s), 7 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 7 bam,fastq
EGAD00001000928 RNA-Seq data for 7 CD14-positive, CD16-negative classical monocyte sample(s). 7 run(s), 7 experiment(s), 7 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 7 fastq
EGAD00001002387 RNA-Seq data for 7 alternatively activated macrophage sample(s). 9 run(s), 7 experiment(s), 7 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 7 bam,fastq
EGAD00001001181 RNA-Seq data for 7 Acute promyelocytic leukemia sample(s). 7 run(s), 7 experiment(s), 7 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 7 fastq,bam
EGAD00001001555 RNA-Seq data for 7 Acute promyelocytic leukemia sample(s). 7 run(s), 7 experiment(s), 7 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 7 fastq,bam
EGAD00001002443 RNA-Seq data for 7 Acute Myeloid Leukemia - CTR sample(s). 7 run(s), 7 experiment(s), 7 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 7 bam,fastq
EGAD00001002963 RNA-Seq data for 6 sample(s) Acute Lymphocytic Leukemia for precursor B cell from venous blood, on Genome GRCh38. 6 run(s), 6 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 6 fastq
EGAD00001002315 RNA-Seq data for 6 naive B cell sample(s). 6 run(s), 6 experiment(s), 6 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 6 bam,fastq
EGAD00001002507 RNA-Seq data for 6 macrophage sample(s). 7 run(s), 6 experiment(s), 6 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 6 bam,fastq
EGAD00001002417 RNA-Seq data for 6 inflammatory macrophage sample(s). 6 run(s), 6 experiment(s), 6 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 6 bam,fastq
EGAD00001002316 RNA-Seq data for 6 hematopoietic stem cell sample(s). 13 run(s), 6 experiment(s), 6 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 6 bam,fastq
EGAD00001001156 RNA-Seq data for 6 hematopoietic stem cell sample(s). 13 run(s), 6 experiment(s), 6 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 6 fastq,readme_file,bam
EGAD00001001515 RNA-Seq data for 6 hematopoietic stem cell sample(s). 13 run(s), 6 experiment(s), 6 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 6 fastq,bam
EGAD00001002339 RNA-Seq data for 6 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 24 run(s), 6 experiment(s), 6 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 6 bam,fastq
EGAD00001002336 RNA-Seq data for 5 Mantle Cell Lymphoma sample(s). 5 run(s), 5 experiment(s), 5 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 5 bam,fastq
EGAD00001002489 RNA-Seq data for 5 common lymphoid progenitor sample(s). 20 run(s), 5 experiment(s), 5 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 5 bam,fastq
EGAD00001001184 RNA-Seq data for 5 common lymphoid progenitor sample(s). 20 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 5 fastq,readme_file,bam
EGAD00001001558 RNA-Seq data for 5 common lymphoid progenitor sample(s). 20 run(s), 5 experiment(s), 5 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 5 fastq,bam
EGAD00001001165 RNA-Seq data for 5 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 23 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 5 fastq,readme_file,bam
EGAD00001001534 RNA-Seq data for 5 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 23 run(s), 5 experiment(s), 5 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 5 fastq,bam
EGAD00001001523 RNA-Seq data for 4 plasma cell sample(s). 4 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 4 fastq,bam
EGAD00001001572 RNA-Seq data for 4 monocyte sample(s). 4 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 4 fastq,bam
EGAD00001002360 RNA-Seq data for 4 monocyte - T=0days sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 4 bam,fastq
EGAD00001002338 RNA-Seq data for 4 monocyte - None sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 4 bam,fastq
EGAD00001001532 RNA-Seq data for 4 monocyte - None sample(s). 4 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 4 fastq,bam
EGAD00001002433 RNA-Seq data for 4 megakaryocyte-erythroid progenitor cell sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 4 bam,fastq
EGAD00001001140 RNA-Seq data for 4 megakaryocyte-erythroid progenitor cell sample(s). 4 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 4 fastq,readme_file,bam
EGAD00001000915 RNA-Seq data for 4 megakaryocyte-erythroid progenitor cell sample(s). 4 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 4 fastq
EGAD00001001492 RNA-Seq data for 4 megakaryocyte-erythroid progenitor cell sample(s). 4 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 4 fastq,bam
EGAD00001002457 RNA-Seq data for 4 macrophage - T=6days untreated sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 4 bam,fastq
EGAD00001002337 RNA-Seq data for 4 macrophage - T=6days LPS sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 4 bam,fastq
EGAD00001002522 RNA-Seq data for 4 macrophage - T=6days B-glucan sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 4 bam,fastq
EGAD00001000911 RNA-Seq data for 4 erythroblast sample(s). 22 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 4 fastq
EGAD00001002321 RNA-Seq data for 4 cytotoxic CD56-dim natural killer cell sample(s). 4 run(s), 4 experiment(s), 4 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 4 bam,fastq
EGAD00001000903 RNA-Seq data for 4 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 22 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 4 fastq
EGAD00001001202 RNA-Seq data for 4 alternatively activated macrophage sample(s). 6 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 4 fastq,bam,readme_file
EGAD00001001586 RNA-Seq data for 4 alternatively activated macrophage sample(s). 6 run(s), 4 experiment(s), 4 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 4 fastq,bam
EGAD00001002426 RNA-Seq data for 3 T-cell Prolymphocytic Leukemia sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001002380 RNA-Seq data for 3 segmented neutrophil of bone marrow sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000 (ILLUMINA) 3
EGAD00001001579 RNA-Seq data for 3 segmented neutrophil of bone marrow sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002288 RNA-Seq data for 3 neutrophilic myelocyte sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001001477 RNA-Seq data for 3 neutrophilic myelocyte sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002366 RNA-Seq data for 3 neutrophilic metamyelocyte sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001002467 RNA-Seq data for 3 mature neutrophil - G-CSF/Dex. Treatment (16-20 hrs) sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001001520 RNA-Seq data for 3 mature neutrophil - G-CSF/Dex. Treatment (16-20 hrs) sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002471 RNA-Seq data for 3 mature conventional dendritic cell - GM-CSF_IL4_T=6_days_R848_T=24hrs sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001001132 RNA-Seq data for 3 inflammatory macrophage sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq,bam,readme_file
EGAD00001000908 RNA-Seq data for 3 inflammatory macrophage sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001001480 RNA-Seq data for 3 inflammatory macrophage sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002526 RNA-Seq data for 3 immature conventional dendritic cell - GM-CSF_IL4_T=6_days sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001000939 RNA-Seq data for 3 hematopoietic stem cell sample(s). 8 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001002363 RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001001186 RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq,readme_file,bam
EGAD00001000919 RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001001561 RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002306 RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001001146 RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq,readme_file,bam
EGAD00001000922 RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001001501 RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002452 RNA-Seq data for 3 germinal center B cell sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001001159 RNA-Seq data for 3 cytotoxic CD56-dim natural killer cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001001521 RNA-Seq data for 3 cytotoxic CD56-dim natural killer cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002478 RNA-Seq data for 3 common myeloid progenitor sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001001169 RNA-Seq data for 3 common myeloid progenitor sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq,readme_file,bam
EGAD00001000907 RNA-Seq data for 3 common myeloid progenitor sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001001538 RNA-Seq data for 3 common myeloid progenitor sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001000918 RNA-Seq data for 3 common lymphoid progenitor sample(s). 15 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001002476 RNA-Seq data for 3 class switched memory B cell sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 3 bam,fastq
EGAD00001002438 RNA-Seq data for 3 CD38-negative naive B cell sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001002446 RNA-Seq data for 3 band form neutrophil sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001001504 RNA-Seq data for 3 band form neutrophil sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 3 fastq,bam
EGAD00001002353 RNA-Seq data for 3 Acute Promyelocytic Leukemia - CTR sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 3 bam,fastq
EGAD00001002356 RNA-Seq data for 3 Acute Promyelocytic Leukemia - ATRA sample(s). 3 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000 (ILLUMINA) 3
EGAD00001002465 RNA-Seq data for 27 Acute Myeloid Leukemia sample(s). 27 run(s), 27 experiment(s), 27 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 27 bam,fastq
EGAD00001002671 RNA-Seq data for 212 CD4-positive, alpha-beta T cell sample(s). 212 run(s), 212 experiment(s), 212 analysis(s) on human genome GRCh37. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/blueprint_Epivar/protocols/README_rnaseq_analysis_sanger_20160816 Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 212 bam,fastq
EGAD00001002675 RNA-Seq data for 205 mature neutrophil sample(s). 205 run(s), 205 experiment(s), 205 analysis(s) on human genome GRCh37. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/blueprint_Epivar/protocols/README_rnaseq_analysis_sanger_20160816 Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 205 bam,fastq
EGAD00001002956 RNA-Seq data for 2 sample(s) T-cell lymphoma for helper T cell from venous blood, on Genome GRCh38. 2 run(s), 2 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 2 fastq
EGAD00001002968 RNA-Seq data for 2 sample(s) Acute Myeloid Leukemia for myeloid cell from venous blood, on Genome GRCh38. 2 run(s), 2 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 2 fastq
EGAD00001002479 RNA-Seq data for 2 osteoclast sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001001566 RNA-Seq data for 2 neutrophilic metamyelocyte sample(s). 2 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001002375 RNA-Seq data for 2 monocyte sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002473 RNA-Seq data for 2 mesenchymal stem cell of the bone marrow sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001002326 RNA-Seq data for 2 mature eosinophil sample(s). 3 run(s), 3 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002436 RNA-Seq data for 2 endothelial cell of umbilical vein (resting) sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001001496 RNA-Seq data for 2 endothelial cell of umbilical vein (resting) sample(s). 2 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001002341 RNA-Seq data for 2 endothelial cell of umbilical vein (proliferating) sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001001535 RNA-Seq data for 2 endothelial cell of umbilical vein (proliferating) sample(s). 2 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001002456 RNA-Seq data for 2 effector memory CD8-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001002469 RNA-Seq data for 2 effector memory CD4-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 2 bam,fastq
EGAD00001002345 RNA-Seq data for 2 conventional dendritic cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002349 RNA-Seq data for 2 central memory CD4-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002295 RNA-Seq data for 2 CD8-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001001137 RNA-Seq data for 2 CD8-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 2 fastq,readme_file,bam
EGAD00001001488 RNA-Seq data for 2 CD8-positive, alpha-beta T cell sample(s). 2 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001001145 RNA-Seq data for 2 CD38-negative naive B cell sample(s). 2 run(s), 2 experiment(s), 2 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001001500 RNA-Seq data for 2 CD38-negative naive B cell sample(s). 2 run(s), 2 experiment(s), 2 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 2 fastq,bam
EGAD00001002334 RNA-Seq data for 2 adult endothelial progenitor cell sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002343 RNA-Seq data for 2 Acute Myeloid Leukemia - SAHA sample(s). 2 run(s), 2 experiment(s), 2 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 2 bam,fastq
EGAD00001002674 RNA-Seq data for 197 CD14-positive, CD16-negative classical monocyte sample(s). 197 run(s), 197 experiment(s), 197 analysis(s) on human genome GRCh37. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/blueprint_Epivar/protocols/README_rnaseq_analysis_sanger_20160816 Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 197 bam,fastq
EGAD00001001199 RNA-Seq data for 18 macrophage sample(s). 19 run(s), 18 experiment(s), 18 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 18 fastq,readme_file,bam
EGAD00001001582 RNA-Seq data for 18 macrophage sample(s). 19 run(s), 18 experiment(s), 18 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 18 fastq,bam
EGAD00001002401 RNA-Seq data for 14 Multiple Myeloma sample(s). 14 run(s), 14 experiment(s), 14 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000 (ILLUMINA) 14
EGAD00001001474 RNA-Seq data for 14 mature neutrophil sample(s). 14 run(s), 14 experiment(s), 14 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 14 fastq,bam
EGAD00001002409 RNA-Seq data for 14 mature neutrophil sample(s). 14 run(s), 14 experiment(s), 13 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 13 bam,fastq
EGAD00001001471 RNA-Seq data for 11 Multiple myeloma sample(s). 11 run(s), 11 experiment(s), 11 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 11 fastq,bam
EGAD00001001129 RNA-Seq data for 10 mature neutrophil sample(s). 10 run(s), 10 experiment(s), 10 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 10 fastq,readme_file,bam
EGAD00001002348 RNA-Seq data for 10 CD4-positive, alpha-beta T cell sample(s). 10 run(s), 10 experiment(s), 10 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 10 bam,fastq
EGAD00001001173 RNA-Seq data for 10 CD4-positive, alpha-beta T cell sample(s). 10 run(s), 10 experiment(s), 10 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 10 fastq,bam
EGAD00001001544 RNA-Seq data for 10 CD4-positive, alpha-beta T cell sample(s). 10 run(s), 10 experiment(s), 10 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 10 fastq,bam
EGAD00001002414 RNA-Seq data for 1 unswitched memory B cell sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001002287 RNA-Seq data for 1 T-cell Acute Lymphocytic Leukemia sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001001469 RNA-Seq data for 1 T-cell acute leukemia sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002960 RNA-Seq data for 1 sample(s) for monocyte T=6day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002967 RNA-Seq data for 1 sample(s) for monocyte T=6day_RANK_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002965 RNA-Seq data for 1 sample(s) for monocyte T=2day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002957 RNA-Seq data for 1 sample(s) for monocyte T=2day_RANK_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002959 RNA-Seq data for 1 sample(s) for monocyte T=1day_M-CSF_S100A9_4hr_RANL from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002964 RNA-Seq data for 1 sample(s) for monocyte T=1day_4hr_RANK from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002961 RNA-Seq data for 1 sample(s) for monocyte T=10day_S100A9_RANKL_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002966 RNA-Seq data for 1 sample(s) for monocyte T=10day_RANK_M-CSF from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002955 RNA-Seq data for 1 sample(s) for monocyte T=0day from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002958 RNA-Seq data for 1 sample(s) Acute Myeloid Leukemia from venous blood, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002962 RNA-Seq data for 1 sample(s) Acute Myeloid Leukemia for blast cell from bone marrow, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002954 RNA-Seq data for 1 sample(s) Acute Lymphocytic Leukemia from bone marrow, on Genome GRCh38. 1 run(s), 1 experiment(s), 0 alignment(s). Part of BLUEPRINT (September 2016).Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000;ILLUMINA 1 fastq
EGAD00001002351 RNA-Seq data for 1 regulatory T cell sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001174 RNA-Seq data for 1 regulatory T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001546 RNA-Seq data for 1 regulatory T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002347 RNA-Seq data for 1 memory B cell sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001171 RNA-Seq data for 1 memory B cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001542 RNA-Seq data for 1 memory B cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001525 RNA-Seq data for 1 mature eosinophil sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001000933 RNA-Seq data for 1 macrophage sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001001178 RNA-Seq data for 1 Leukemia sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001551 RNA-Seq data for 1 Leukemia sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002402 RNA-Seq data for 1 late basophilic and polychromatophilic erythroblast sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001142 RNA-Seq data for 1 endothelial cell of umbilical vein (resting) sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001166 RNA-Seq data for 1 endothelial cell of umbilical vein (proliferating) sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002320 RNA-Seq data for 1 effector memory CD8-positive, alpha-beta T cell, terminally differentiated sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001153 RNA-Seq data for 1 effector memory CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001512 RNA-Seq data for 1 effector memory CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001163 RNA-Seq data for 1 effector memory CD4-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001526 RNA-Seq data for 1 effector memory CD4-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001170 RNA-Seq data for 1 conventional dendritic cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001540 RNA-Seq data for 1 conventional dendritic cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002509 RNA-Seq data for 1 colony forming unit erythroid sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001001164 RNA-Seq data for 1 class switched memory B cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001531 RNA-Seq data for 1 class switched memory B cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002482 RNA-Seq data for 1 central memory CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001001175 RNA-Seq data for 1 central memory CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001547 RNA-Seq data for 1 central memory CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001172 RNA-Seq data for 1 central memory CD4-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001001543 RNA-Seq data for 1 central memory CD4-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002289 RNA-Seq data for 1 CD8-positive, alpha-beta thymocyte sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001478 RNA-Seq data for 1 CD8-positive, alpha-beta thymocyte sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001000912 RNA-Seq data for 1 CD8-positive, alpha-beta T cell sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001002299 RNA-Seq data for 1 CD4-positive, alpha-beta thymocyte sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001489 RNA-Seq data for 1 CD4-positive, alpha-beta thymocyte sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002525 RNA-Seq data for 1 CD3-positive, CD4-positive, CD8-positive, double positive thymocyte sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001001593 RNA-Seq data for 1 CD3-positive, CD4-positive, CD8-positive, double positive thymocyte sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002422 RNA-Seq data for 1 CD3-negative, CD4-positive, CD8-positive, double positive thymocyte sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001001483 RNA-Seq data for 1 CD3-negative, CD4-positive, CD8-positive, double positive thymocyte sample(s). 1 run(s), 1 experiment(s), 1 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_crg_20150820 Illumina HiSeq 2000; 1 fastq,bam
EGAD00001002365 RNA-Seq data for 1 blast forming unit erythroid sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001000937 RNA-Seq data for 1 alternatively activated macrophage sample(s). 1 run(s), 1 experiment(s), 1 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001002500 RNA-Seq data for 1 Acute Promyelocytic Leukemia - MS-275 (20h) sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001002352 RNA-Seq data for 1 Acute Promyelocytic Leukemia - MC2884 sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001002513 RNA-Seq data for 1 Acute Promyelocytic Leukemia - MC2884 (4h) sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001002461 RNA-Seq data for 1 Acute Promyelocytic Leukemia - MC2884 (24h) sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000; 1 bam,fastq
EGAD00001002359 RNA-Seq data for 1 Acute Promyelocytic Leukemia - MC2392 sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001002332 RNA-Seq data for 1 Acute Lymphocytic Leukemia - CTR sample(s). 1 run(s), 1 experiment(s), 1 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnaseq_analysis_crg_20160816 Illumina HiSeq 2000;ILLUMINA 1 bam,fastq
EGAD00001003293 RNA-Seq and WXS from 6 glioblastoma patients Illumina HiSeq 2500;ILLUMINA 11
EGAD00001000057 RNA-Seq analysis Illumina Genome Analyzer II 15 Illumina_native_qseq
EGAD00001000824 RNA sequencing will be undertaken to reconstruct rearrangements at level of transcription to determine pathogenomic genomic events in chondromyxoid fibroma. Illumina HiSeq 2000; 1 cram
EGAD00001000732 RNA sequencing to validate findings of somatic pseudogenes acquired during cancer development Illumina HiSeq 2000; 3 cram
EGAD00001000223 RNA sequencing of SCLC tumor/normal sample pairs and cell lines Illumina HiSeq 2000; 79 fastq
EGAD00001000881 RNA sequencing of Resistant BCC samples. Illumina HiSeq 2000; 11 fastq
EGAD00001002233 RNA sequencing of peripheral immune cells from patients +/- an IBD risk variant. Peripheral immune cells +/- in vitro test compound treatment. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 24 cram
EGAD00001001944 RNA sequencing of paediatric glioblastoma in the ICGC PedBrain project Illumina HiSeq 2500; 42 fastq
EGAD00001000215 RNA sequencing of colon tumor/normal sample pairs Illumina HiSeq 2000; 139 fastq
EGAD00001001411 RNA sequencing of 57 tumor samples of adult T-cell leukemia/lymphoma as well as 3 samples of HTLV-1 carrier and 3 samples of healthy volunteers. Illumina HiSeq 2000; 63 bam
EGAD00001003142 RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold depletion to remove ribosomal RNA. Sequencing was done via llumina Hi-Seq2000 sequencer, using 100bp paired end reads. Illumina HiSeq 2000 (ILLUMINA), Illumina HiSeq 1500 (ILLUMINA) 38
EGAD00001002011 RNA sequencing data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. 64 bam
EGAD00001002744 RNA sequencing data of human small intestinal macrophage subtypes NextSeq 500;ILLUMINA 15
EGAD00001002136 RNA sequencing data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 25 fastq
EGAD00001003285 RNA sequencing data for MMML (3 tumor samples and 1 gcbcell) 5
EGAD00001003279 RNA sequencing data for 170 medulloblastoma tumor samples Illumina HiSeq 2000;ILLUMINA 171
EGAD00001000793 RNA sequencing (RNA-Seq) for St. Jude High Grade Glioma (HGG) study Illumina HiSeq 2000; 75 bam
EGAD00001001121 RNA Sequencing Illumina HiSeq 2000; 26 fastq
EGAD00001001923 RNA sequence data for conditionally reprogrammed cells from patient HUB_5 Illumina HiSeq 2500; 1 fastq
EGAD00001003790 RNA seq reads constituting of FASTQ paired end reads from 5 FHD/FHDL patients Illumina HiSeq 2000;ILLUMINA 13
EGAD00010001032 RNA Expression using Illumina HT12 v3 Illlumina HT12 v3 153
EGAD00010000869 RNA expression microarray Illumina_HumanHT-12v4 62
EGAD00001003429 RNA analysis of two patients 11 and 15 with WGS done on Illumina HiSeq2000. For research purpose and authorised user only. Illumina HiSeq 2000;ILLUMINA 2
EGAD00001003430 RNA analysis of six patients 34, 35, 36, 37, 38 and 39 with WGS done on Illumina HiSeq2500. For research purpose and authorised user only. Illumina HiSeq 2500;ILLUMINA 6
EGAD00001000809 RIKEN collection WGS reads for 61 liver cancer and matched blood samples from 30 donors displaying biliary phenotype Illumina HiSeq 2000; 61 fastq
EGAD00001000808 RIKEN collection WGS reads for 321 HCC and blood matched samples from 158 donors submitted to ICGC for release 15 Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 321 fastq
EGAD00001000842 RIKEN collection WGS reads for 100 HCC and matched blood samples from 50 donors submitted to ICGC for release 16 Illumina HiSeq 2000; 100 fastq
EGAD00001001035 RIKEN collection WGS and RNA-seq reads for 66 HBV-associated HCC and matched blood or liver samples from 22 donors. Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 66 fastq
EGAD00001001642 RIKEN collection of WGS reads of 530 liver cancer and matched blood samples from 260 donors. Illumina HiSeq 2000; 530 fastq
EGAD00001001881 RIKEN collection of WGS reads for 543 liver cancer and matched blood or liver samples from 260 donors. Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 543 fastq
EGAD00001001996 RIKEN collection of WGS reads for 13 multicentric liver cancers or intrahepatic metastasis and matched blood samples for 12 donors. Illumina HiSeq 2000; 13 fastq
EGAD00001001643 RIKEN collection of WGS read of 59 multi-centric liver cancers or intra-haptatic metastasis and matched blood samples from 19 donors. Illumina HiSeq 2000; 59 fastq
EGAD00001001880 RIKEN collection of RNA-seq reads for 458 liver cancer samples and matched normal liver from 247 donors. Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 458 fastq
EGAD00010000956 Rheumatic heart disease cases recruited in New Caledonia with higher density genotyping HumanOmniExpressExome-8 BeadChip 34
EGAD00010000957 Rheumatic heart disease cases recruited in New Caledonia HumanCore-24 BeadChip 465
EGAD00010000955 Rheumatic heart disease cases recruited in Fiji with higher density genotyping HumanOmniExpressExome-8 BeadChip 32
EGAD00010000961 Rheumatic heart disease cases recruited in Fiji HumanCore-24 BeadChip 535
EGAD00001002657 Reverse Capture Hi-C Illumina HiSeq 2000;ILLUMINA 8 fastq
EGAD00001000261 Retinoblastoma whole genome sequencing Illumina HiSeq 2000; 8 bam
EGAD00010000823 Results of SNP arrays on synchronous CRC samples 1
EGAD00010001289 Resolving the Genetic Architecture of Aseptic Loosening After Total Hip Replacement Illumina InfiniumCoreExome-24v1-1_A 2,880
EGAD00001000264 Resistance towards chemotherapy is one of the main causes of treatment failure and death among breast cancer patients.The main objective of this project is to identify genetic mechanisms causing some breast cancer patients not to respond to a particluar type of chemotherapy (epirubicin) while other patients respond very well to the same treatment. In the project we will perform genome / exome sequencing of a selection of breast cancer patients (n=30). These patients are drawn from a cohort where all patients have recieved treatment with epirubicin monotherapy before surgical removal of a locally advanced breast tumour, and where all patients have been subjected to objective evaluation of the response to the therapy. Subsequent to sequencing, we will analyse the data and compare with the clinical data for each patient (object response to therapy). The main aim being to identify mutations that are associated with resistance to epirubicin. Identification of mutations with strong predictive value, may have a direct impact on cancer treatment since it opens the possibility for genetic testing of a tumour, and desicion on which drug is likely to work best, prior to treatment start. Illumina HiSeq 2000; 29 bam
EGAD00010000768 Replication data for HipSci normal samples using both HumanCoreExome-12_v1 and HumanOmni2.5-8 BeadChips 0
EGAD00001000100 Renal Matched Pair Cell Line Exome Sequencing Illumina Genome Analyzer II 10 bam
EGAD00001000142 Renal Follow Up Series Illumina HiSeq 2000, Illumina HiSeq 2000; 637 bam
EGAD00001002067 Renal cell carcinoma (RCC) is a genomically heterogeneous tumor. In the present project, the question whether intratumoral heterogeneity follows a zonal pattern indicating spatial niches was addressed. Whole exome sequencing of 16 paired samples from tumor periphery and center revealed a number of region-specific functional SNVs and Indels. Therefore, RCCs are not composed of evenly admixed tumor cells but show topological differences in their clonal composition. Illumina HiSeq 2500; 16 fastq
EGAD00001001625 release_2: ICGC PedBrain: whole genome sequencing Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 209 bam,fastq
EGAD00001000327 release_2: ICGC PedBrain: whole genome mate-pair sequencing Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 70 bam,fastq
EGAD00001001630 release_2: ICGC PedBrain: whole genome bisulfite sequencing Illumina HiSeq 2000; 108 readme_file,fastq
EGAD00001001624 release_2: ICGC PedBrain: whole exome sequencing and Target-Seq Illumina HiSeq 2000; 188 bam
EGAD00001001620 release_2: ICGC PedBrain: RNA sequencing Illumina HiSeq 2000; 45 fastq
EGAD00001001621 release_2: ICGC PedBrain: ChIP-Seq Illumina HiSeq 2000; 31 fastq
EGAD00001000723 Relative Spatial Homogeneity of Embryonal Brain Tumors of Childhood 42 bam
EGAD00001003259 Regions of common inter-individual DNA methylation differences in human monocytes – potential function and genetic basis WGBS Data of Samples: 43_Hm03_BlMo_Ct, 43_Hm02_BlMo_Ct, 43_Hm05_BlMo_Ct, 43_Hm01_BlMo_Ct For details about sequencing or sample metadata check http://deep.dkfz.de/ Illumina HiSeq 2000;ILLUMINA 4
EGAD00001000023 Recurrent Somatic Mutations in CLL Illumina Genome Analyzer IIx 11 fastq
EGAD00001000044 Recurrent Somatic Mutations in CLL Illumina Genome Analyzer IIx 212 fastq
EGAD00001000083 Recurrent Somatic Mutations in CLL Illumina Genome Analyzer II;, Illumina Genome Analyzer IIx 61 fastq
EGAD00001002697 Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling. Illumina HiSeq 2000;ILLUMINA 9 bam
EGAD00001002698 Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling. Illumina MiSeq;ILLUMINA, Illumina HiSeq 2000;ILLUMINA, Illumina HiSeq 2500;ILLUMINA 387 cram
EGAD00001002696 Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling. HiSeq X Ten;ILLUMINA, Illumina HiSeq 2000;ILLUMINA 60 bam,cram
EGAD00001003783 Recent studies using next-generation sequencing strategies have described the landscape of genetic alterations in diffuse large B-cell lymphoma (DLBCL). However, little is known about the clinical relevance of recurrent mutations and copy number alterations and their transcriptional footprints. This study examines the frequency, interaction and clinical impact of recurrent genetic aberrations in DLBCL using high-resolution technologies in a large population-based cohort. 324
EGAD00001002197 Recent GWAS studies have made extensive use of large eQTL data sets to functionally annotate index SNPs. With a large number of association signals located outside coding regions there has been an intense search among sequence variants affecting gene expression at the transcriptional level. However, little progress has been made in mapping regulatory variants that affect protein levels at the translational or post-translational level. It is now possible to undertake a protein QTL scan for focused sets of e.g. oxidized proteins by mass spectrometry. We have established a collaboration with a longitudinal, family-based study in France, the Stanislas cohort, which comprises circa 1000 nuclear families (4,295 individuals) and has follow up data for 10 years (three visits). We have undertaken a pilot study in a focus set of 257 subjects from 79 families with the aim to integrate GWAS, transcriptomic and DNA methylation data with proteomic data on a set of 100 proteins measured in PBMCs. We have already generated GWAS data using Illumina's core-exome chip as well as DNA methylation profiles with the 450K array. We propose to use RNA seq to generate transcriptomic data of the corresponding PBMCs. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 155 cram
EGAD00010001420 Read counts determined using HTSeq-count for the BBMRI BIOS Freeze 2 RNAseq data RNAseq 3,560
EGAD00001003236 Raw whole genome sequence data(fastq) for the GATCI project HiSeq X Ten;ILLUMINA 10
EGAD00001000821 Raw sequencing data for all samples in fastq format. Illumina HiSeq 2000; 767 fastq
EGAD00001002885 Raw sequence data, fastq format Illumina HiSeq 2000;ILLUMINA 26 fastq
EGAD00001001858 Raw fastq files from WGS sequencing of CLL and matching blood normal for the ICGC Techval Benchmark1 study. Sequence data was provided to multiple centers for independent analysis and comparison. Illumina HiSeq 2500; 2 fastq
EGAD00001001859 Raw fastq files for sequence data generated at 5 sequencing centers from a Medulloblastoma sample and matching blood normal control. Illumina HiSeq 2500; 2 fastq
EGAD00001001094 Raw Fastq files for 124 CPCGene Tumour/Normal Pairs from the 200PG Study Illumina HiSeq 2500;ILLUMINA, Illumina HiSeq 2500; 247 fastq
EGAD00001003235 Raw exome sequence data(fastq) for the GATCI project unspecified;ILLUMINA 172
EGAD00001002116 Raw data (fastq files) from whole exome sequencing of AML patients (paired diagnosis and complete remission samples) Illumina HiSeq 2000; 12 fastq
EGAD00001002118 Raw data (fastq files) from targeted resequencing of AML patients at relapse Illumina MiSeq; 24 fastq
EGAD00001002117 Raw data (fastq files) from targeted resequencing of AML patients at diagnosis Illumina MiSeq; 68 fastq
EGAD00010001414 Raw Array data from the PRAD-CA for ICGC DCC Release26 Affymetrix OncoScan FFPE Express 86
EGAD00010001196 Raw Array data from the CPCGene BRCA study Affymetrix OncoScan FFPE Express 48
EGAD00010001218 Raw Array data from the CPCGene 200PG study Affymetrix OncoScan FFPE Express 248
EGAD00010001074 Rare CNVs from schizophrenia cases and controls Mulitple CNV platforms 0
EGAD00000000026 Randomly-selected, unrelated individuals Illumina 610-Quad 518
EGAD00001003254 R&D project to develop low input library construction methods. Illumina HiSeq 2500;ILLUMINA 12
EGAD00001000818 Quiescent Sox2+ cells drive hierarchical growth and relapse in Sonic hedgehog subgroup medulloblastoma 4 bam
EGAD00001002071 qDNAseq shallow sequencing dataset of the cell line use case. 5 other,bam
EGAD00010000666 Purified plasma cells from tonsil of Healthy donor unknown 1
EGAD00010000670 Purified plasma cells from bone marrow of Pooled healthy donors unknown 1
EGAD00010000672 Purified plasma cells from bone marrow of Multiple myeloma patient unknown 1
EGAD00010000668 Purified plasma cells from bone marrow of Monoclonal gammopathy of unknown significance patient unknown 1
EGAD00001000652 Pulldown experiments will be performed on a number of patients with Myeloproliferative Neoplasms (MPN). The pulldown will be a bespoke design targeting known mutations, this pulldown will be sequenced and analysed to inform prevalence of mutations and to inform to the possibility of use as a diagnostic tool. Illumina HiSeq 2000; 1,036 bam
EGAD00001000245 Pulldown cytosine deaminases Illumina HiSeq 2000; 20 bam
EGAD00010000124 Psoriasis cases as part of WTCCC2 phase 2 Illumina_670k - Illuminus 2,622
EGAD00010001006