What are Datasets?

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

Total number of Datasets: 2089
Displaying 1 - 2089

Dataset Accession Description Technology Samplessort descending File Types
EGAD00000000019 840 families where both parents have been genotyped together with the child with severe malaria 0
EGAD00000000104 Gabriel samples from the Russian UFA cohort Illumina 610-Quad 0
EGAD00000000098 Gabriel samples from the Swiss SALPADIA cohort Illumina 610-Quad 0
EGAD00000000090 Gabriel samples from the Russian KMSU cohort Illumina 610-Quad 0
EGAD00000000105 Gabriel samples from the multicenter occupational cohort Illumina 610-Quad 0
EGAD00000000087 Gabriel samples from the multicenter GAIN cohort Illumina 610-Quad 0
EGAD00000000092 Gabriel samples from the German MAGIS cohort Illumina 610-Quad 0
EGAD00000000083 Gabriel samples from the French EGEA Cohort Illumina 610-Quad 0
EGAD00000000088 Gabriel samples from the Karelia Allergy Study Illumina 610-Quad 0
EGAD00000000076 Gabriel samples from the Australian Bussleton Cohort Illumina 610-Quad 0
EGAD00000000095 Gabriel samples from the Dutch PIAMA cohort Illumina 610-Quad 0
EGAD00000000093 Gabriel samples from the German MAGIS cohort Illumina 610-Quad 0
EGAD00000000082 Gabriel samples from the French EGEA Cohort Illumina 610-Quad 0
EGAD00000000102 Gabriel samples from the Russian TOMSK cohort Illumina 610-Quad 0
EGAD00000000106 Gabriel samples from the multicenter occupational cohort Illumina 610-Quad 0
EGAD00000000085 Gabriel samples from the German Gabriel Advanced Survey Illumina 610-Quad 0
EGAD00000000108 Gabriel samples from the UK AUGOSA cohort Illumina 610-Quad 0
EGAD00000000075 Gabriel samples from the Swedish BAMSE Cohort Illumina 610-Quad 0
EGAD00000000107 Gabriel samples from the multicenter occupational cohort Illumina 610-Quad 0
EGAD00000000091 Gabriel samples from the Russian KMSU cohort Illumina 610-Quad 0
EGAD00000000101 Gabriel samples from the Russian TOMSK cohort Illumina 610-Quad 0
EGAD00000000074 Gabriel samples from the Swedish BAMSE Cohort Illumina 610-Quad 0
EGAD00000000103 Gabriel samples from the Russian UFA cohort Illumina 610-Quad 0
EGAD00000000086 Gabriel samples from the multicenter GAIN cohort Illumina 610-Quad 0
EGAD00000000077 Gabriel samples from the Australian Bussleton Cohort Illumina 610-Quad 0
EGAD00000000097 Gabriel samples from the Swiss SALPADIA cohort Illumina 610-Quad 0
EGAD00000000110 Gabriel aggregate data from the asthma study samples Illumina 610-Quad 0
EGAD00000000084 Gabriel samples from the German Gabriel Advanced Survey Illumina 610-Quad 0
EGAD00000000089 Gabriel samples from the Karelia Allergy Study Illumina 610-Quad 0
EGAD00000000094 Gabriel samples from the UK MRCA cohort Illumina 610-Quad 0
EGAD00000000109 Gabriel samples from the UK SEVERE cohort Illumina 610-Quad 0
EGAD00000000073 Gabriel samples from the 1958 British Birth Cohort Illumina 610-Quad 0
EGAD00000000096 Gabriel samples from the Dutch PIAMA cohort Illumina 610-Quad 0
EGAD00000000020 685 families where both parents have been genotyped together with the child with severe malaria 0
EGAD00000000017 Cord blood control samples from Gambia 0
EGAD00000000018 Severe malaria cases from Gambia 0
EGAD00010000702 SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015) 0
EGAD00010000534 Illumina HumanMethylation450 BeadChip 0
EGAD00010000528 Illumina HumanHT-12 v4 array 0
EGAD00010000532 Illumina Human Omni1-Quad SNP genotyping array 0
EGAD00010000698 PCGP INF ALL SNP6 0
EGAD00010000706 SNP array data for 668 cancer cell lines 0
EGAD00010000712 ATRT genotyping 0
EGAD00010000624 A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille. 5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. Among the 5 mutation carriers, 4 were genotyped for 97 European Ancestry Informative SNPs (EAIMs). 0
EGAD00010000696 PCGP ETP ALL SNP6 0
EGAD00010000724 Pilot experiment on functional genomics in osteoarthritis (methyl) 0
EGAD00010000710 ATRT genotyping blood 0
EGAD00010000764 Ovarian tumor samples using Illumina 0
EGAD00010000768 Replication data for HipSci normal samples using both HumanCoreExome-12_v1 and HumanOmni2.5-8 BeadChips 0
EGAD00010000819 Summary statistics from meta-analysis for BP phenotypes 0
EGAD00001000081 Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing Illumina HiSeq 2000 1 bam
EGAD00000000053 Sequencing data from Breast Cancer samples Illumina Genome Analyzer II 1
EGAD00000000054 NCI-H209 is an immortal cell line derived from a bone marrow metastasis of a patient with small cell lung cancer, taken before chemotherapy. The specimen showed histologically typical small cells with classic neuroendocrine features. NCI-BL209 is an EBV-transformed B-cell line derived from the same patient as the small cell lung cancer cell line, NCI-H209 Life Tech - Solid 1
EGAD00010000823 Results of SNP arrays on synchronous CRC samples 1
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
EGAD00001000249 This is the bam file generated after alignment using BWA program for the SAIF genome Illumina HiSeq 2000; 1 bam
EGAD00001000254 This dataset contain the raw files generated for SAIF genome project Illumina HiSeq 2000; 1 fastq
EGAD00001000602 Illumina HiSeq 2000; 1 bam
EGAD00001000091 Non Tumour Renal Cell Line Sequencing Illumina Genome Analyzer II 1 bam
EGAD00001000308 Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing 1 bam
EGAD00001000139 Tumor sample of a serious ovarian carcinoma Complete Genomics 1 CompleteGenomics_native
EGAD00001000140 Blood sample of serious ovarian carcinoma patient Complete Genomics 1 CompleteGenomics_native
EGAD00000000045 Genomic sequencing and transcriptome shotgun sequencing of a metastatic tumour and its recurrence after drug therapy in a single patient Illumina Genome Analyzer II 1
EGAD00000000048 Sequencing data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample Illumina Genome Analyzer II 1
EGAD00000000049 RNA-SEQ data from oestrogen-receptor-alpha-positive metastatic lobular breast cancer sample Illumina Genome Analyzer II 1
EGAD00010000300 Summary statistics from Haemgen RBC GWAS Illumina, Affymetrix, Perlegen 1
EGAD00001000301 A couple of previously characterized and sequenced libraries will be repeated using a couple of differing size selection criteria and skim sequenced using an Illumina HiSeq. The resulting sequence will be analyzed to determine the optimal DNA library size for our specific downstream analysis. Illumina HiSeq 2000; 1 bam
EGAD00001000395 Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma 1 bam
EGAD00001000601 Illumina HiSeq 2000; 1 bam
EGAD00010000482 ccRCC case samples using methylation array Illumina Infinium HumanMethylation 450K - GenomeStudio 1
EGAD00001001285 McGill EMC Release 4 in tissue "Brodmann (1909) area 44" Illumina HiSeq 2500; 1 fastq
EGAD00001000665 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. Sample derived from secondary myelodysplastic syndrome (MDS), arising after treatment for medulloblastoma in an 11-year old female Li-Fraumeni syndrome case (LFS-MB1; Rausch et al., 2012; matching WGS data available under EGAS00001000085). 1 bam
EGAD00001001277 McGill EMC Release 4 in tissue "fat pad" for cell type "fat cell" Illumina HiSeq 2500; 1 fastq
EGAD00001002238 ChIP-Seq (H3K4me3, H3K4me1, H3K9me3, H3K27ac, H3K27me3, H3K36me3, Input) data for HL60 cell line generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency. Illumina HiSeq 2000; 1
EGAD00001000856 Illumina HiSeq 2000; 1 fastq
EGAD00001000756 UK10K_OBESITY_SCOOP UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 1 tabix,vcf
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
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
EGAD00001000804 UK10K_RARE_NMWG REL-2013-03-06 Illumina HiSeq 2000; 1 tabix,vcf
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
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
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
EGAD00001000942 DNase-Hypersensitivity data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001000931 DNase-Hypersensitivity 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001000916 ChIP-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001000929 ChIP-Seq data for 1 macrophage sample(s). 6 run(s), 6 experiment(s), 6 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001000906 ChIP-Seq data for 1 mature eosinophil 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001000927 Bisulfite-Seq data for 1 Plasma cell sample(s). 11 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000910 Bisulfite-Seq data for 1 precursor lymphocyte of B lineage sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000923 Bisulfite-Seq data for 1 macrophage sample(s). 14 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000909 Bisulfite-Seq data for 1 erythroblast sample(s). 14 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000921 Bisulfite-Seq data for 1 CD8-positive, alpha-beta T cell sample(s). 14 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000917 Bisulfite-Seq data for 1 hematopoietic multipotent progenitor cell sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000920 Bisulfite-Seq data for 1 alternatively activated macrophage sample(s). 10 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000932 Bisulfite-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 14 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001000943 Bisulfite-Seq data for 1 germinal center B cell sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001000284 Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing Illumina Genome Analyzer IIx; 1
EGAD00001000290 Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing Illumina Genome Analyzer IIx; 1
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
EGAD00001001195 ChIP-Seq data for 1 effector memory CD8-positive, alpha-beta T cell, terminally differentiated 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001001144 ChIP-Seq data for 1 central memory CD4-positive, alpha-beta T cell sample(s). 6 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001001182 ChIP-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 1 fastq
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
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
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
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
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
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
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
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
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
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
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
EGAD00001001190 DNase-Hypersensitivity data for 1 Acute myeloid 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001001161 DNase-Hypersensitivity data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 1 fastq
EGAD00001001160 Bisulfite-Seq data for 1 plasma cell sample(s). 11 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001001203 Bisulfite-Seq data for 1 germinal center B cell sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001001151 Bisulfite-Seq data for 1 endothelial cell of umbilical vein (proliferating) sample(s). 21 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001134 Bisulfite-Seq data for 1 precursor lymphocyte of B lineage sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001001131 Bisulfite-Seq data for 1 memory B cell sample(s). 20 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001176 Bisulfite-Seq data for 1 class switched memory B cell sample(s). 20 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001162 Bisulfite-Seq data for 1 Acute myeloid leukemia sample(s). 18 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001141 Bisulfite-Seq data for 1 hematopoietic multipotent progenitor cell sample(s). 8 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam,readme_file
EGAD00001001150 Bisulfite-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 14 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001200 Bisulfite-Seq data for 1 effector memory CD8-positive, alpha-beta T cell sample(s). 11 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 1 bam
EGAD00001001284 McGill EMC Release 4 in tissue "Brodmann (1909) area 11" Illumina HiSeq 2500; 1 fastq
EGAD00001001300 McGill EMC Release 4 for assay "ATAC-seq": Sequencing of transposase-accessible chromatin as described by Buenrostro et al. (Nature Methods 10, 1213?1218 (2013) doi:10.1038/nmeth.2688) Illumina HiSeq 2500; 1 fastq
EGAD00001001286 McGill EMC Release 4 in tissue "Brodmann (1909) area 8;Brodmann (1909) area 9" Illumina HiSeq 2500; 1 fastq
EGAD00010000730 WTCCC2 Psychosis Endophenotype samples from UK, Germany, Holland, Spain and Australia using the Affymetrix 6.0 array 1
EGAD00010000722 Pilot experiment on functional genomics in osteoarthritis (coreex) 1
EGAD00001001414 DATA FILES FOR PCGP Dyer_iPSC RNASEQ Illumina HiSeq 2000; 1
EGAD00001001419 DATA FILES FOR PCGP Dyer_iPSC ChIP-Seq Illumina HiSeq 2000; 1
EGAD00001001390 Human monocytes from a healthy male blood donor were obtained after written informed consent and anonymised. Library preparation was performed essentially as described in the “Whole‐genome Bisulfite Sequencing for Methylation Analysis (WGBS)” protocol as released by Illumina. The library was sequenced on an Illumina HiSeq2500 using 101 bp paired-end sequencing. Read mapping was done with BWA. 1 bam,readme_file
EGAD00010000791 Illumina HumanOmni2.5-8 BeadChip 1
EGAD00010000748 Genotyping using Illumina Human OmniExpress12v1.0 1
EGAD00001001554 ChIP-Seq data for 1 adult endothelial progenitor cell sample(s). 8 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_chipseq_analysis_ebi_20150820 1 fastq
EGAD00001001503 ChIP-Seq data for 1 CD3-positive, CD4-positive, CD8-positive, double positive thymocyte 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001577 ChIP-Seq data for 1 effector memory CD8-positive, alpha-beta T cell, terminally differentiated 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001528 ChIP-Seq data for 1 Leukemia 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001584 ChIP-Seq data for 1 CD4-positive, alpha-beta thymocyte 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001568 ChIP-Seq data for 1 CD8-positive, alpha-beta thymocyte 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001557 ChIP-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 7 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_chipseq_analysis_ebi_20150820 1 fastq
EGAD00001001569 ChIP-Seq data for 1 Acute lymphocytic leukemia - CTR 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_chipseq_analysis_ebi_20150820 1 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
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
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
EGAD00001001570 ChIP-Seq data for 1 CD3-negative, CD4-positive, CD8-positive, double positive thymocyte 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
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
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
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 1 fastq
EGAD00001001499 ChIP-Seq data for 1 central memory CD4-positive, alpha-beta T cell sample(s). 9 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
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 1 fastq
EGAD00001001578 ChIP-Seq data for 1 mesenchymal stem cell of the bone marrow sample(s). 9 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_chipseq_analysis_ebi_20150820 1 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
EGAD00001001545 DNase-Hypersensitivity data for 1 alternatively activated macrophage 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 1 fastq
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
EGAD00001001549 DNase-Hypersensitivity data for 1 Acute Myeloid 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 1 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 1 fastq
EGAD00001001524 DNase-Hypersensitivity data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 1 fastq
EGAD00001001475 DNase-Hypersensitivity data for 1 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 1 fastq
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
EGAD00001001536 ChIP-Seq data for 1 Acute Myeloid Leukemia - MC2884 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 1 fastq
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
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 1 fastq
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
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
EGAD00001001583 Bisulfite-Seq data for 1 effector memory CD8-positive, alpha-beta T cell sample(s). 11 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001565 Bisulfite-Seq data for 1 monocytes - T=0days sample(s). 15 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001494 Bisulfite-Seq data for 1 memory B cells 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001507 Bisulfite-Seq data for 1 mature eosinophil sample(s). 15 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001479 Bisulfite-Seq data for 1 memory B cell sample(s). 20 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001530 Bisulfite-Seq data for 1 Acute Myeloid Leukemia - CTR sample(s). 18 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001509 Bisulfite-Seq data for 1 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 14 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001587 Bisulfite-Seq data for 1 germinal center B cell sample(s). 6 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001553 Bisulfite-Seq data for 1 central memory CD8-positive, alpha-beta T cell sample(s). 13 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001556 Bisulfite-Seq data for 1 naive B cell sample(s). 5 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001567 Bisulfite-Seq data for 1 effector memory CD4-positive, alpha-beta T cell sample(s). 15 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001493 Bisulfite-Seq data for 1 hematopoietic multipotent progenitor cell sample(s). 5 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001541 Bisulfite-Seq data for 1 effector memory CD8-positive, alpha-beta T cell, terminally differentiated sample(s). 15 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001564 Bisulfite-Seq data for 1 regulatory T cell sample(s). 15 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001529 Bisulfite-Seq data for 1 precursor B cell sample(s). 6 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_bisulphite_analysis_CNAG_20150820 1 bam
EGAD00001001563 Bisulfite-Seq data for 1 central memory CD4-positive, alpha-beta T cell sample(s). 15 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 1 bam
EGAD00001001456 1000Genomes imputed data set of 581 cases and 417 controls for male-pattern baldness 1 vcf
EGAD00001001602 Illumina HiSeq 2000; 1 fastq
EGAD00001001454 Previously we performed deep WGS on 6 parents and 13 children from 3 large families from the Scottish Family Health Study to identify de novo mutations. This prelim is cover the additional sequencing of one grandchild from one of these three families. The inclusion of a third generation individual will provide additional experimental validation for the de novo mutations found in the initial trio. As in the previous study, the DNA will be WGS to a depth of approximately 25X to achieve this purpose. These data can only be used for the investigation of the genetic causes of the reported clinical phenotypes in these patients Illumina HiSeq 2000; 1 bam
EGAD00010000827 Illumina Infinium 450K array data 1
EGAD00001001275 Illumina HiSeq 2000; 1 fastq
EGAD00010000815 ATL tumor samples using Affymetrix 250K SNP array 1
EGAD00010000813 ATL tumor samples using Illumina 450K Methylation array 1
EGAD00010000811 ATL tumor samples using Illumina 610K SNP array 1
EGAD00001001663 Low coverage (4x-8x) Illumina HiSeq curated sequence data from 3 African populations from the AGV project; 100 Baganda from Uganda (4x), 100 Zulu from South Africa (4x), and 120 Gumuz, Wolayta, Oromo, Somali and Amhara from Ethiopia (8x). Pre-processed, jointly called and filtered with GATK, refined with Beagle3, phased with SHAPEIT2. 1 vcf
EGAD00001001782 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB8_F 1 other
EGAD00001001785 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW12_F 1 other
EGAD00001001738 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB38_M 1 other
EGAD00001001068 Illumina HiSeq 2000; 1 bam
EGAD00001001070 Illumina HiSeq 2000; 1 bam
EGAD00001002161 Transcriptome from EGAS00001001845 Illumina HiSeq 2500; 1
EGAD00001001847 4C-seq data was generated for regions of interest to confirm enhancer-gene promoter interactions Illumina HiSeq 2000; 1 fastq
EGAD00001001917 PacBio data for mesothelioma cell line NCI-H2595. PacBio RS II; 1 fastq
EGAD00001001791 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW15_F 1 other
EGAD00001001801 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW22_M 1 other
EGAD00001001706 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB22_C 1 other
EGAD00001001795 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW18_M 1 other
EGAD00001001748 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB43_C 1 other
EGAD00001001779 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB62_F 1 other
EGAD00001001739 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB40_C 1 other
EGAD00001001722 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB28_F 1 other
EGAD00001001766 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB55_C 1 other
EGAD00001001797 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW20_F 1 other
EGAD00001001828 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW47_M 1 other
EGAD00001001754 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB4_C 1 other
EGAD00001001833 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW4_F 1 other
EGAD00001001829 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW49_C 1 other
EGAD00001001838 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW51_C 1 other
EGAD00001001792 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW15_M 1 other
EGAD00001001762 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB51_M 1 other
EGAD00001001831 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW49_M 1 other
EGAD00001001807 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW27_M 1 other
EGAD00001001780 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB62_M 1 other
EGAD00001001718 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB27_C 1 other
EGAD00001001767 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB55_F 1 other
EGAD00001001781 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB8_C 1 other
EGAD00001001711 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB23_M 1 other
EGAD00001001823 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW46_C 1 other
EGAD00001001778 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB62_C 1 other
EGAD00001001819 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW38_M 1 other
EGAD00001001770 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB57_F 1 other
EGAD00001001743 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB41_F 1 other
EGAD00001001745 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB42_C 1 other
EGAD00001001842 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW52_F 1 other
EGAD00001001813 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW2_M 1 other
EGAD00001001725 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB30_F 1 other
EGAD00001001799 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW22_C 1 other
EGAD00001001835 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW50_C 1 other
EGAD00001001784 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW12_C 1 other
EGAD00001001818 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW38_F 1 other
EGAD00001001708 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB22_M 1 other
EGAD00001001750 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB43_M 1 other
EGAD00001001824 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW46_F 1 other
EGAD00001001830 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW49_F 1 other
EGAD00001001705 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB21_M 1 other
EGAD00001001793 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW18_C 1 other
EGAD00001001834 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW4_M 1 other
EGAD00001001789 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW14_M 1 other
EGAD00001001826 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW47_C 1 other
EGAD00001001768 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB55_M 1 other
EGAD00001001788 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW14_F 1 other
EGAD00001001803 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW24_F 1 other
EGAD00001001756 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB4_M 1 other
EGAD00001001775 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB60_C 1 other
EGAD00001001759 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB50_M 1 other
EGAD00001001721 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB28_C 1 other
EGAD00001001703 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB21_C 1 other
EGAD00001001776 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB60_F 1 other
EGAD00001001695 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB10_F 1 other
EGAD00001001805 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW27_C 1 other
EGAD00001001701 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB1_F 1 other
EGAD00001001796 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW20_C 1 other
EGAD00001001751 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB44_C 1 other
EGAD00001001804 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW24_M 1 other
EGAD00001001765 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB52_M 1 other
EGAD00001001744 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB41_M 1 other
EGAD00001001742 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB41_C 1 other
EGAD00001001816 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW32_M 1 other
EGAD00001001713 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB24_F 1 other
EGAD00001001700 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB1_C 1 other
EGAD00001001714 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB24_M 1 other
EGAD00001001815 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW32_F 1 other
EGAD00001001732 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB33_M 1 other
EGAD00001001699 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB15_M 1 other
EGAD00001001736 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB38_C 1 other
EGAD00001001825 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW46_M 1 other
EGAD00001001843 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW52_M 1 other
EGAD00001001753 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB44_M 1 other
EGAD00001001723 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB28_M 1 other
EGAD00001001741 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB40_M 1 other
EGAD00001001810 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW29_M 1 other
EGAD00001001839 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW51_F 1 other
EGAD00001001755 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB4_F 1 other
EGAD00001001760 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB51_C 1 other
EGAD00001001841 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW52_C 1 other
EGAD00001001822 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW3_M 1 other
EGAD00001001730 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB33_C 1 other
EGAD00001001786 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW12_M 1 other
EGAD00001001798 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW20_M 1 other
EGAD00001001716 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB25_F 1 other
EGAD00001001772 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB58_C 1 other
EGAD00001001717 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB25_M 1 other
EGAD00001001702 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB1_M 1 other
EGAD00001001719 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB27_F 1 other
EGAD00001001731 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB33_F 1 other
EGAD00001001712 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB24_C 1 other
EGAD00001001790 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW15_C 1 other
EGAD00001001758 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB50_F 1 other
EGAD00001001836 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW50_F 1 other
EGAD00001001764 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB52_F 1 other
EGAD00001001800 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW22_F 1 other
EGAD00001001794 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW18_F 1 other
EGAD00001001806 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW27_F 1 other
EGAD00001001697 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB15_C 1 other
EGAD00001001704 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB21_F 1 other
EGAD00001001809 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW29_F 1 other
EGAD00001001724 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB30_C 1 other
EGAD00001001817 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW38_C 1 other
EGAD00001001840 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW51_M 1 other
EGAD00001001727 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB31_C 1 other
EGAD00001001752 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB44_F 1 other
EGAD00001001783 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB8_M 1 other
EGAD00001001771 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB57_M 1 other
EGAD00001001726 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB30_M 1 other
EGAD00001001709 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB23_C 1 other
EGAD00001001811 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW2_C 1 other
EGAD00001001746 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB42_F 1 other
EGAD00001001820 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW3_C 1 other
EGAD00001001757 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB50_C 1 other
EGAD00001001715 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB25_C 1 other
EGAD00001001710 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB23_F 1 other
EGAD00001001761 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB51_F 1 other
EGAD00001001821 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW3_F 1 other
EGAD00001001694 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB10_C 1 other
EGAD00001001696 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB10_M 1 other
EGAD00001001707 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB22_F 1 other
EGAD00001001787 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW14_C 1 other
EGAD00001001814 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW32_C 1 other
EGAD00001001728 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB31_F 1 other
EGAD00001001747 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB42_M 1 other
EGAD00001001827 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW47_F 1 other
EGAD00001001733 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB35_C 1 other
EGAD00001001769 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB57_C 1 other
EGAD00001001763 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB52_C 1 other
EGAD00001001837 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW50_M 1 other
EGAD00001001802 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW24_C 1 other
EGAD00001001737 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB38_F 1 other
EGAD00001001749 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB43_F 1 other
EGAD00001001812 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW2_F 1 other
EGAD00001001698 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB15_F 1 other
EGAD00001001729 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB31_M 1 other
EGAD00001001773 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB58_F 1 other
EGAD00001001735 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB35_M 1 other
EGAD00001001720 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB27_M 1 other
EGAD00001001734 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB35_F 1 other
EGAD00001001774 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB58_M 1 other
EGAD00001001808 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: MW29_C 1 other
EGAD00001001740 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB40_F 1 other
EGAD00001001777 50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array, targeted gene and whole exome screening. Dataset consists of sample: BvB60_M 1 other
EGAD00001001920 TEST3 dataset containing 1 FASTQ file with mRNA reads. Illumina HiSeq 2500; 1 fastq
EGAD00001002193 Single case of T-ALL carrying t(4;6), a novel translocation. Illumina HiSeq 2000; 1
EGAD00010000912 SEA 610K Illumina 610K 1
EGAD00001001923 RNA sequence data for conditionally reprogrammed cells from patient HUB_5 Illumina HiSeq 2500; 1
EGAD00001002217 Merged file of low-coverage WGS from 179 plasma DNA samples from non-cancer controls and cancer patients for assessment of size distribution of plasma nuclear DNA fragments. Illumina MiSeq; 1
EGAD00001002163 Transcriptome from EGAS00001001846 Illumina HiSeq 2500; 1
EGAD00001002250 mRNA-Seq, HiSeq 2000 dataset of the Cell-line use case Illumina HiSeq 2000; 1
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
EGAD00010000130 Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples Illumina 300 Duo V2 - Bead Studio, Illumina 2
EGAD00000000055 COLO-829 is a publicly available immortal cancer cell line and COLO-829BL is a lymphoblastoid cell line derived from the same patient Illumina Genome Analyzer II 2
EGAD00001000149 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome Illumina HiSeq 2000 2 srf
EGAD00001001658 Genome and transcriptome sequence data from an odontogenic ghost cell carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2 bam
EGAD00001000224 Enrichment of CRC 454 GS FLX Titanium; 2 bam
EGAD00010000379 DNA methylation analysis of 2 peripheral blood samples HumanMethylation450k Bead Chip - Genome Studio 2
EGAD00001000359 In this study we will sequence the transcriptome of Verified Cancer Cell lines. This will be married up to whole exome and whole genome sequencing data to establish a full catalog of the variations and mutations found. Illumina HiSeq 2000; 2 bam
EGAD00001000048 monozygotic twin discordant for schizophrenia CompleteGenomics build 1.4.2.8 - CG Build 1.4.2.8 2 CompleteGenomics_native
EGAD00010000220 Ovarian & matched normal (Genotypes) Complete Genomics - CG Build 1.4.2.8 2
EGAD00001000607 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. 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; 2 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
EGAD00001001287 McGill EMC Release 4 in tissue "kidney" Illumina HiSeq 2500; 2 fastq
EGAD00001000642 Illumina HiScanSQ; 2 bam
EGAD00001000643 Illumina HiScanSQ; 2 bam
EGAD00001001326 Whole genome sequencing of single adult t-cell leukemia/lymphoma case Illumina HiSeq 2000; 2 bam
EGAD00001001260 Illumina HiSeq 2000; 2 fastq
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
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
EGAD00001000757 UK10K_RARE_SIR UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000779 AB SOLiD 4 System; 2 bam
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
EGAD00001000805 UK10K_RARE_THYWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000803 UK10K_RARE_FINDWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000802 UK10K_RARE_CILWG REL-2013-03-06 Illumina HiSeq 2000; 2 tabix,vcf
EGAD00001000926 DNase-Hypersensitivity data for 2 inflammatory macrophage sample(s). 2 run(s), 2 experiment(s), 2 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001000924 ChIP-Seq data for 2 erythroblast sample(s). 14 run(s), 14 experiment(s), 14 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001000936 ChIP-Seq data for 2 CD8-positive, alpha-beta T cell sample(s). 13 run(s), 13 experiment(s), 13 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001000934 Bisulfite-Seq data for 2 Multiple myeloma sample(s). 16 run(s), 2 experiment(s), 2 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 2 bam,readme_file
EGAD00001001242 Pilot study to set up sequencing protocols for targeted pulldown methylation profiling Illumina MiSeq; 2 cram
EGAD00001001259 Illumina HiSeq 2000; 2 fastq
EGAD00001001261 Bisulfite-Seq of CD14-positive, CD16-negative classical monocyte samples for methylome saturation and COMET analysis Illumina HiSeq 2000; 2 bam,readme_file
EGAD00001001123 Deep sequencing of two skin biopsies to study the landscape of somatic mutations in human adult tissues. Illumina HiSeq 2000; 2 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
EGAD00001001001 2 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
EGAD00001001044 Ion Torrent PGM; 2 bam
EGAD00001001063 Chondromxoid fibroma is a benign tumour of bone with unknown underlying pathogenesis. To determine pathognomic genomic event in chondromyxoid fibroma whole genome sequencing will be undertaken to reconstruct rearrangements and find underlying mutations. Illumina HiSeq 2000; 2 bam,cram
EGAD00001001859 Illumina HiSeq 2500; 2 fastq
EGAD00001001858 Illumina HiSeq 2500; 2 fastq
EGAD00001001083 Illumina HiSeq 2000; 2 fastq
EGAD00001001127 ChIP-Seq data for 2 effector memory CD8-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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001183 ChIP-Seq data for 2 endothelial cell of umbilical vein (resting) 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001197 ChIP-Seq data for 2 monocyte 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000;, NextSeq 500; 2 fastq
EGAD00001001194 ChIP-Seq data for 2 erythroblast sample(s). 14 run(s), 14 experiment(s), 14 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001168 ChIP-Seq data for 2 mature eosinophil sample(s). 12 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001136 ChIP-Seq data for 2 endothelial cell of umbilical vein (proliferating) sample(s). 13 run(s), 13 experiment(s), 13 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 2 fastq
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
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
EGAD00001001193 DNase-Hypersensitivity data for 2 inflammatory macrophage 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001180 Bisulfite-Seq data for 2 central memory CD8-positive, alpha-beta T cell sample(s). 27 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 2 bam
EGAD00001001133 Bisulfite-Seq data for 2 erythroblast sample(s). 35 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 2 bam,readme_file
EGAD00001001135 Bisulfite-Seq data for 2 endothelial cell of umbilical vein (resting) 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 2 bam
EGAD00001001152 Bisulfite-Seq data for 2 Multiple myeloma sample(s). 16 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 2 bam,readme_file
EGAD00001001185 DNase-Hypersensitivity data for 2 monocyte sample(s). 4 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 2 fastq
EGAD00001001302 Illumina HiSeq 2500; 2 bam
EGAD00001001351 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 2 bam
EGAD00001001353 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 2 bam
EGAD00001001310 Genome and transcriptome sequence data from a peritoneal mesothelioma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2 bam
EGAD00001001384 Mutations that activate the RAF-MEK-ERK signaling pathway, in particular BRAFV600E, occur in many cancers, and mutant BRAF-selective inhibitors have clinical activity in these diseases. Activating BRAF alleles are usually considered to be mutually exclusive with mutant RAS, whereas inactivating mutations in the D594F595G596 motif of the BRAF activation segment can coexist with oncogenic RAS and cooperate via paradoxical MEK/ERK activation. We determined the functional consequences of a largely uncharacterized BRAF mutation, F595L, which was detected along with an HRASQ61R allele by clinical exome sequencing in a patient with histiocytic sarcoma and also occurs in epithelial cancers, melanoma, and neuroblastoma, and investigated its interaction with mutant RAS. We demonstrate that, unlike previously described DFG motif mutants, BRAFF595L is a gain-of-function variant with intermediate activity towards MEK that does not act paradoxically, but nevertheless cooperates with mutant RAS to promote oncogenic signaling. Of immediate clinical relevance, BRAFF595L shows divergent responses to different mutant BRAF-selective inhibitors, whereas signaling driven by BRAFF595L with and without mutant RAS is efficiently blocked by pan-RAF and MEK inhibitors. Mutation data from primary patient samples and cell lines show that BRAFF595L, as well as other BRAF mutations with intermediate activity, frequently coincide with mutant RAS in a broad spectrum of cancers. These data define a novel class of activating BRAF mutations that cooperate with oncogenic RAS in a non-paradoxical fashion to achieve an optimal level of MEK-ERK signaling, extend the spectrum of patients with systemic histiocytic disorders and other malignancies who are candidates for therapeutic blockade of the RAF-MEK-ERK pathway, and underscore the value of comprehensive genetic profiling for understanding the signaling requirements of individual cancers. Illumina HiSeq 2500; 2 fastq
EGAD00001001415 DATA FILES FOR PCGP Dyer_iPSC WGS Illumina HiSeq 2000; 2 bam
EGAD00001001429 Profiling subclonal architecture and phylogeny in tumors by whole-genome sequence data mining and single-cell genome sequencing HiSeq X Ten; 2 cram
EGAD00001001539 ChIP-Seq data for 2 mature eosinophil sample(s). 12 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20150820 2 fastq
EGAD00001001487 ChIP-Seq data for 2 endothelial cell of umbilical vein (proliferating) sample(s). 12 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20150820 2 fastq
EGAD00001001502 ChIP-Seq data for 2 germinal center B cell sample(s). 12 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_chipseq_analysis_ebi_20150820 2 fastq
EGAD00001001559 ChIP-Seq data for 2 endothelial cell of umbilical vein (resting) 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000; 2 fastq
EGAD00001001470 ChIP-Seq data for 2 plasma cell sample(s). 13 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20150820 2 fastq
EGAD00001001472 ChIP-Seq data for 2 effector memory CD8-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_chipseq_analysis_ebi_20150820 2 fastq
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
EGAD00001001580 ChIP-Seq data for 2 monocyte sample(s). 6 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_chipseq_analysis_ebi_20150820 Illumina HiSeq 2000;, NextSeq 500; 2 fastq
EGAD00001001592 ChIP-Seq data for 2 Multiple myeloma sample(s). 16 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_chipseq_analysis_ebi_20150820 2 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
EGAD00001001574 ChIP-Seq data for 2 erythroblast sample(s). 12 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20150820 2 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
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
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 2 fastq
EGAD00001001473 Bisulfite-Seq data for 2 cytotoxic CD56-dim natural killer cell sample(s). 24 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_bisulphite_analysis_CNAG_20150820 2 bam
EGAD00001001522 Bisulfite-Seq data for 2 plasma cell sample(s). 17 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_bisulphite_analysis_CNAG_20150820 2 bam
EGAD00001001497 Bisulfite-Seq data for 2 conventional dendritic cell sample(s). 30 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_bisulphite_analysis_CNAG_20150820 2 bam
EGAD00001001486 Bisulfite-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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 2 bam
EGAD00001001484 Bisulfite-Seq data for 2 erythroblast sample(s). 35 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 2 bam
EGAD00001001548 Bisulfite-Seq data for 2 class switched memory B cell sample(s). 21 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_bisulphite_analysis_CNAG_20150820 2 bam
EGAD00001001510 Bisulfite-Seq data for 2 endothelial cell of umbilical vein (proliferating) sample(s). 36 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 2 bam
EGAD00001001560 DNase-Hypersensitivity data for 2 monocyte sample(s). 4 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 2 fastq
EGAD00001001616 2 bam
EGAD00001001600 PCR and MiSeq validation for early embryonic substitution candidates from 400 Breast cancer patients Illumina MiSeq; 2 cram
EGAD00001001633 BAM files for two WES TRAIP patients Illumina HiSeq 2000; 2 bam
EGAD00001001686 In the autozygosity exome sequencing of Born-in-Bradford samples of Pakistani origin there is a mother who is homozygous for an apparent truncating stop codon in PRDM9, the gene responsible for localising recombination during meiosis. We plan to deep sequence mother and child with X10, and physically phase the mother with PacBio sequencing. We will use this data to identify recombination locations, and test whether these are consistent with the known fine scale recombination map. Illumina HiSeq 2500; 2 cram
EGAD00001002159 Exome Seq for Study EGAS00001001844 Illumina HiSeq 2000; 2
EGAD00001002160 Exome Seq for EGAS00001001845 Illumina HiSeq 2500; 2
EGAD00001002162 Exome Seq from EGAS00001001846 Illumina HiSeq 2500; 2
EGAD00001001656 Genome and transcriptome sequence data from an atypical chronic lymphocytic leukemia patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2 bam
EGAD00010000909 HipSci normal ES lines REL-2016-04 Illumina 2
EGAD00001001093 Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing Illumina HiSeq 2000; 2
EGAD00001001999 The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform WES on commercially available ES cells Illumina HiSeq 2000; 2
EGAD00001002000 The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on commercially available ES cells 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; 2
EGAD00010000910 HipSci normal ES lines REL-2016-04 Illumina 2
EGAD00010000911 HipSci normal ES lines REL-2016-04 Illumina 2
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
EGAD00001002043 Genome and transcriptome sequence data from a recurrent glioma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002037 Genome sequence data from an adrenal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002034 Genome and transcriptome sequence data from a pancreatic cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002023 Genome and transcriptome sequence data from a lung cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002020 Genome and transcriptome sequence data from a metastatic NPC patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002045 Genome and transcriptome sequence data from a lung cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002049 Genome and transcriptome sequence data from an adrenal cortical carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
EGAD00001002019 Genome and transcriptome sequence data from a breast primary patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
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
EGAD00001002184 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
EGAD00001002199 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
EGAD00010000919 samples using Illumina HUMANOMNI1QUAD HUMANOMNI1QUAD 2
EGAD00001002216 RNA-Seq on an Ion Torrent Proton of corresponding tumor material of two metastasized breast cancer patients (Breast7, Breast13). Ion Torrent Proton; 2
EGAD00001002164 Exome from EGA00001001848 Illumina HiSeq 2000; 2
EGAD00001002243 RNA-seq data for patient samples Illumina HiSeq 2500; 2
EGAD00001002069 Complete genomics data for VCaP and PC346c. 2
EGAD00001002252 The present protocol seeks to provide molecular profiling data to the treating physician for patients with advanced breast, non-small cell lung, colorectal, genitourinary, pancreatobiliary gastrointestinal, upper aerodigestive tract, gynecological, melanoma, unknown primary, and rare carcinomas, as well as patients who are phase I trial candidates, in order to help identify which standard regimens or clinical trials of molecularly targeted therapies may be most appropriate for the individual patient. Illumina MiSeq; 2
EGAD00001000444 Cancer is driven my mutations in the genome. We will uncover the mutations that give rise to Ewing's sarcoma, a bone tumour that largely affects children. We will use second generation Illumina massively parallel sequencing, and bespoke software, to characterise the genomes and transcriptomes of Ewing's sarcoma tumours. Illumina HiSeq 2000; 3 bam
EGAD00001000034 "Usage of small amounts of DNA for Illumina sequencing" Illumina Genome Analyzer II 3 bam
EGAD00001000090 Glioma cell lines rearrangement screen Illumina Genome Analyzer II 3 bam
EGAD00001000381 Illumina paired-end sequencing of whole- exome pulldown DNA from Severe Insulin Resistant patients. Illumina HiSeq 2000; 3 bam
EGAD00001000220 Deep sequencing of CTCs 454 GS FLX Titanium;, Illumina MiSeq; 3 bam
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
EGAD00001000060 Acral melanoma study whole genomes Complete Genomics 3 CompleteGenomics_native
EGAD00001000061 Acral melanoma study whole exomes Illumina Genome Analyzer IIx 3 fastq
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
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
EGAD00001000368 Genomic libraries (500 bps) will be generated from total genomic DNA derived from Osteosarcoma cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions. Illumina HiSeq 2000; 3 bam
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
EGAD00001000639 Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events. Illumina HiSeq 2000; 3 bam
EGAD00001000672 Whole-genome Bisulfite sequencing of two multiple myeloma samples and one pooled sample of plasma cells. Illumina HiSeq 2000; 3 bam
EGAD00001000732 RNA sequencing to validate findings of somatic pseudogenes acquired during cancer development Illumina HiSeq 2000; 3 cram
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
EGAD00001000925 ChIP-Seq data for 3 CD4-positive, alpha-beta T cell sample(s). 21 run(s), 21 experiment(s), 21 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001000940 ChIP-Seq data for 3 inflammatory macrophage sample(s). 21 run(s), 21 experiment(s), 21 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 3 fastq
EGAD00001000914 Bisulfite-Seq data for 3 inflammatory macrophage sample(s). 38 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam,readme_file
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
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
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
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
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
EGAD00010000684 glioma normal samples using cytoscan 3
EGAD00001001253 DNA was derived from the primary tumour, lung metastasis, and peri-aortic lymph node metastasis. DNA from the spleen was used as a normal control. WG sequencing produced ~30-fold (primary tumour, spleen normal)-50-fold (lung metastasis) coverage 3 bam
EGAD00001001257 Illumina HiSeq 2000; 3 fastq
EGAD00001001081 Healthy reference samples 3 bam
EGAD00001001057 RNA-seq from normal human tissues (2 x 75 bp) Illumina HiSeq 2000; 3 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
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
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
EGAD00001001187 ChIP-Seq data for 3 Chronic lymphocytic leukemia sample(s). 6 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 3 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
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
EGAD00001001157 Bisulfite-Seq data for 3 CD4-positive, alpha-beta T cell sample(s). 61 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam
EGAD00001001139 Bisulfite-Seq data for 3 inflammatory macrophage sample(s). 38 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam,readme_file
EGAD00001001205 Bisulfite-Seq data for 3 CD38-negative naive B cell sample(s). 29 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam
EGAD00001001167 Bisulfite-Seq data for 3 Acute promyelocytic leukemia sample(s). 24 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam
EGAD00001001128 Bisulfite-Seq data for 3 cytotoxic CD56-dim natural killer cell sample(s). 38 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 3 bam
EGAD00001001281 McGill EMC Release 4 in tissue "venous blood" for cell type "eosinophil" Illumina HiSeq 2500; 3 fastq
EGAD00001001347 Exome sequencing of a case of lethal EBV-driven LPD Illumina HiSeq 2000; 3 cram
EGAD00001001380 All humans outside Africa are descendants of the same single exit, usually dated at 50-70 thousand years ago. However, the route taken out of Africa is still debated. The two main candidates are a northern route via Egypt and the Levant, or a southern route via Ethiopia and the Arabian Peninsula. We are generating genetic data to evaluate these two possibilities. In this study we propose to generate high-coverage sequencing data for 3 Egyptian samples. Illumina HiSeq 2000; 3 cram
EGAD00001001391 Illumina HiSeq 2000; 3 bam
EGAD00001000992 HIPO blastemal Wilms (nephroblastoma) characterisation of tumor driving events caused by differential SIX1 binding of the SIX1 Q177R mutatns Illumina HiSeq 2500; 3 fastq
EGAD00001001311 Genome and transcriptome sequence data from a peritoneal mesothelioma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3 bam
EGAD00001002024 Genome and transcriptome sequence data from an anal rectal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
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 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
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 3 fastq
EGAD00001001527 ChIP-Seq data for 3 mature neutrophil - G-CSF/Dex. Treatment (16-20 hrs) sample(s). 18 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_chipseq_analysis_ebi_20150820 3 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 3 fastq
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
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 3 fastq
EGAD00001001485 ChIP-Seq data for 3 Acute Myeloid Leukemia - SAHA 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_chipseq_analysis_ebi_20150820 3 fastq
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
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 3 fastq
EGAD00001001573 DNase-Hypersensitivity 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_dnaseseq_analysis_20150820 3 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 3 fastq
EGAD00001001537 Bisulfite-Seq data for 3 Acute promyelocytic leukemia sample(s). 24 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_bisulphite_analysis_CNAG_20150820 3 bam
EGAD00001001516 Bisulfite-Seq data for 3 CD4-positive, alpha-beta T cell sample(s). 61 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_bisulphite_analysis_CNAG_20150820 3 bam
EGAD00001001445 Deep sequencing of melanoma for driver mutations Illumina MiSeq; 3 cram
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
EGAD00001001876 Genome and transcriptome sequence data from a colorectal adenocarcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study. These data are included in the manuscript entitled, "Response to Angiotensin Blockade with Irbesartan in a Patient with Metastatic Colorectal Cancer". 3 bam
EGAD00001001655 Genome and transcriptome sequence data from an atypical teratoid rhabdoid tumor patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3 bam
EGAD00001002032 Genome and transcriptome sequence data from an adenoid cystic carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002036 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002022 Genome and transcriptome sequence data from a colorectal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002017 Genome and transcriptome sequence data from a breast primary patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002030 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002033 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002039 Genome and transcriptome sequence data from an ovarian cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002028 Genome and transcriptome sequence data from a pancreatic cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002048 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002040 Genome and transcriptome sequence data from a squamous cell carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002031 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002029 Genome and transcriptome sequence data from an ovarian granulosa patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002044 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002018 Genome and transcriptome sequence data from a melanoma skin cancer - squamous cell carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002047 Genome and transcriptome sequence data from a breast ductal carcinoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002042 Genome and transcriptome sequence data from an endometrial cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002021 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002046 Genome and transcriptome sequence data from a liposarcoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002035 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002025 Genome and transcriptome sequence data from a colorectal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002041 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00001002027 Genome and transcriptome sequence data from a colorectal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
EGAD00010000913 SEA 660K Illumina 660K 3
EGAD00001002227 In collaboration with Dr David Savage, we have identified a patient with a very unusual phenotype, lacking almost all visceral fat, but showing a massive accumulation of white fat tissue behind her neck and significantly elevated liver fat. Whole exome sequencing of the proband and her unaffected parents and brother has been run previously, however no causative variant has been found and the sequencing coverage was generally poor. We propose to conduct whole genome sequencing of all 4 family members at a depth of 30X. HiSeq X Ten; 3
EGAD00001001385 Exome sequencing in 3 Möbius patients AB SOLiD 4 System; 3
EGAD00001002168 KNIH002 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for islet cells Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002174 A KNIH008 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for adipocytes Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002175 A KNIH009 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for preadipocytes Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002176 A KNIH010 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for podocytes Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002167 KNIH001 Data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for islet cells, Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002170 A KNIH004 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for islet cells Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002177 A KNIH011 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for podocytes Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002173 A KNIH006 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for adipocytes Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002171 A KNIH005 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for islet cells Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002172 A KNIH006 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for βcells Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00001002169 KNIH003 data set, Whole-Genome Bisulfite Sequencing(WGBS) paired end data, mRNA-Seq paired end data and miRNA-Seq single end data for islet cells Illumina HiSeq 2000;, Illumina HiSeq 2500; 3
EGAD00010000680 Tumor sample CGH arrays Agilent CGH array 4
EGAD00001000128 Familial Thrombocytosis germline exome sequencing Illumina HiSeq 2000, Illumina HiSeq 2000; 4 bam
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
EGAD00010000280 CLL Expression array Affymetrix snp 6.0 4
EGAD00001000032 Hepatitis C IL28B pooled resequencing study with 100 responders and 100 non-responders Illumina Genome Analyzer IIx 4 Illumina_native
EGAD00001001863 Exome data of PDX models. Illumina HiSeq 2500; 4 fastq
EGAD00001000221 Whole genome sequencing of SCLC tumor/normal samples Illumina HiSeq 2000; 4 fastq
EGAD00001000174 DATA_SET_Coverage_bias_sensitivity_of_variant_calling_for_4_WG_seq_tech Complete Genomics;, unspecified; 4 bam
EGAD00001000030 Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing Illumina HiSeq 2000 4 bam
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
EGAD00001000279 ICGC MMML-seq Data Freeze November 2012 whole exome sequencing Illumina Genome Analyzer IIx; 4 bam
EGAD00001000274 DATA_SET_TRANSCIPTOME_Comparing_sequencing_four_proto-typical_Burkitt_lymphomas_BL_IG-MYC_translocation Illumina HiSeq 2000; 4 bam
EGAD00010000427 DNA methylation analysis of 4 peripheral blood samples HumanMethylation450k Bead Chip - Genome Studio 4
EGAD00010000429 DNA methylation analysis of 4 primary lymphoma samples HumanMethylation450k Bead Chip - Genome Studio 4
EGAD00001000124 Sequencing Acute Myeloid Leukaemia Illumina HiSeq 2000, Illumina HiSeq 2000; 4 bam
EGAD00001000103 Myeloproliferative Disorder Sequencing Illumina Genome Analyzer II 4 bam
EGAD00000000046 RNA-SEQ data from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples Illumina Genome Analyzer II 4
EGAD00000000047 Signal data for from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples Affymetrix 6.0 4
EGAD00001000025 Determination of the molecular nature of the Vel blood group by exome sequencing Illumina Genome Analyzer II 4 srf
EGAD00001000357 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced by MiSeq. 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; 4 bam
EGAD00001000637 Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 4 bam
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
EGAD00001000674 DNaseI-seq for monocytes Illumina HiSeq 2000; 4 fastq
EGAD00010000492 Cases_Human660W-Quad_v1_A Illumina_Human660W-Quad_v1_A-Not supplied 4
EGAD00010000494 Controls_Human660W-Quad_v1_A Illumina_Human660W-Quad_v1_A-Not supplied 4
EGAD00001000710 Whole Genome Bisulfite-seq of four B cell samples Illumina HiSeq 2000; 4 bam
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
EGAD00001000738 Extension of angiosarcoma whole genome sequencing study Illumina HiSeq 2000; 4 cram
EGAD00001000753 UK10K_RARE_FINDWG REL-2013-09-09 Illumina HiSeq 2000; 4 tabix,vcf
EGAD00001000752 UK10K_RARE_CILWG REL-2013-09-09 Illumina HiSeq 2000; 4 tabix,vcf
EGAD00001000698 Illumina HiSeq sequence data (with >80x 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. The whole exome sequencing data of 20 SHH medulloblastomas from phs000504.v1.p1 dataset has been used in our study on SHH medulloblastomas: http://www.ncbi.nlm.nih.gov/projects/gap/cgi- bin/study.cgi?study_id=phs000504.v1.p1 4 bam
EGAD00001000818 Quiescent Sox2+ cells drive hierarchical growth and relapse in Sonic hedgehog subgroup medulloblastoma 4 bam
EGAD00001000827 n order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs and from studies in the mouse, it appears that an epigenetic memory of the starting cell type is carried over to hiPSCs. However a comprehensive comparative study of the characteristics of these hiPSCs has been missing from the literature. Importantly studies which aimed to address these aspects of hiPSCs have used cells from different patients. In order to avoid this important confounding variable and to keep the genetic background constant, tissue samples were procured from the patients and reprogrammed to iPS cells. The methylation status of these iPS cells will be compared. Protocol: Primary cell cultures were generated and reprogrammed to iPS cells. DNA was extracted and immunoprecipitated using anti-methyl cytosine and anti-hydroxymethyl cytosine antibodies. 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; 4 bam,cram
EGAD00001000631 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. 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; 4 bam
EGAD00001000883 Illumina HiSeq paired-end exome sequencing of a trio and singleton. Illumina HiSeq 2000; 4 bam
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
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
EGAD00001000938 ChIP-Seq data for 4 alternatively activated macrophage sample(s). 29 run(s), 28 experiment(s), 28 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 4 fastq
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
EGAD00001001252 DNA was derived from the primary tumour, lung metastasis, and peri-aortic lymph node metastasis. DNA from the spleen was used as a normal control. For WE sequencing we user Hybrid capture (Nimblegen version 3.0) of the lymph node and lung metastases, primary tumour and spleen normal; we generated ~100-fold coverage. 4 bam
EGAD00001001268 H9 human embryonic stem cells (hESCs) were cultured in feeder-free chemically-defined conditions in medium containing 10ng/ml Activin A and 12ng/ml FGF2 (Vallier L. 2011, Methods in Molecular Biology, 690: 57-66). Chromatin immunoprecipitation was performed as described in Brown S. et al. 2011. Stem Cells 29: 1176-85 by using 5ug of anti-DPY30 antibody (Sigma, cat. number HPA043761). This protocol was performed in control hESCs (expressing a scrambled shRNA) and in hESCs stably expressing an shRNA against DPY30 (Sigma, clone n. TRCN0000131112). 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
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
EGAD00001001009 Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X Illumina HiSeq 2000; 4 fastq
EGAD00001000888 NSCLC WGS. AB 5500 Genetic Analyzer; 4 bam
EGAD00001000889 NSCLC targeted. Ion Torrent PGM; 4 bam
EGAD00001001062 Patient (who has had multiple malignancies) has previously been found to harbour a pathogenic p53 variant which is probably mosaic. This finding is based on exome sequencing performed elsewhere. In this study we will resequence the locus in question to ascertain whether the variant is indeed mosaic. Illumina MiSeq; 4 cram
EGAD00001001064 Extension of angiosarcoma whole genome sequencing study Illumina MiSeq; 4 cram
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
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
EGAD00001001158 ChIP-Seq data for 4 cytotoxic CD56-dim natural killer cell sample(s). 16 run(s), 16 experiment(s), 16 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 4 fastq
EGAD00001001207 ChIP-Seq data for 4 CD38-negative naive B cell sample(s). 14 run(s), 14 experiment(s), 14 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_chipseq_analysis_ebi_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
EGAD00001001143 Bisulfite-Seq data for 4 alternatively activated macrophage sample(s). 64 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 4 bam,readme_file
EGAD00001001189 Bisulfite-Seq data for 4 CD8-positive, alpha-beta T cell sample(s). 56 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 4 bam,readme_file
EGAD00001001349 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 4 bam
EGAD00001001436 AB 5500 Genetic Analyzer; 4 bam
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
EGAD00010000789 ATRT expression Illumina Human HT6-v3 Array 4
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 4 fastq
EGAD00001001495 ChIP-Seq data for 4 neutrophilic metamyelocyte sample(s). 18 run(s), 12 experiment(s), 12 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001588 ChIP-Seq data for 4 segmented neutrophil of bone marrow sample(s). 20 run(s), 19 experiment(s), 19 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001517 ChIP-Seq data for 4 neutrophilic myelocyte 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001514 ChIP-Seq data for 4 alternatively activated macrophage sample(s). 22 run(s), 22 experiment(s), 22 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001518 ChIP-Seq data for 4 cytotoxic CD56-dim natural killer cell sample(s). 17 run(s), 17 experiment(s), 17 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001533 ChIP-Seq data for 4 Acute Myeloid Leukemia - CTR sample(s). 21 run(s), 21 experiment(s), 21 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_chipseq_analysis_ebi_20150820 4 fastq
EGAD00001001476 DNase-Hypersensitivity data for 4 CD14-positive, CD16-negative classical 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 4 fastq
EGAD00001001511 ChIP-Seq data for 4 band form neutrophil sample(s). 18 run(s), 17 experiment(s), 17 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_chipseq_analysis_ebi_20150820 4 fastq
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 4 fastq
EGAD00001001571 Bisulfite-Seq data for 4 CD8-positive, alpha-beta T cell sample(s). 56 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_bisulphite_analysis_CNAG_20150820 Illumina HiSeq 2000; 4 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 4 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
EGAD00001001590 Bisulfite-Seq data for 4 CD38-negative naive B cell sample(s). 44 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_bisulphite_analysis_CNAG_20150820 4 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
EGAD00001001446 Genomic and transcriptomic characterization of drug-resistant colon cancer stem cell lines. Illumina HiSeq 2000; 4 cram
EGAD00001001627 Illumina HiSeq 2000; 4 bam
EGAD00001001846 2 BRAFV600E cell lines that have been made resistance to 1. the BRAF inhibitor PLX4720 and 2. the combination therapy of dabrafenib and trametinib seem to have a internal duplication in the kinase domain. We would like to know if this is caused by a translocation. HiSeq X Ten; 4 cram
EGAD00001002038 Genome and transcriptome sequence data from a peripheral T cell lymphoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 4
EGAD00001002026 Genome and transcriptome sequence data from a breast cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 4
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
EGAD00001002244 WGS data for cell lines and patient samples Illumina HiSeq 2500; 4
EGAD00001002146 The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data HiSeq X Ten; 4
EGAD00001002145 Whole exome sequencing data of primary, secondary and tertiary tumor from a patient. Illumina HiSeq 2500; 4
EGAD00001000026 Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP) Illumina Genome Analyzer II 5 bam,srf
EGAD00001000004 CLL cancer Sample Sequencing Illumina Genome Analyzer II, Illumina Genome Analyzer 5 srf
EGAD00001000018 Identifying causative mutations for Thrombocytopenia with Absent Radii Illumina Genome Analyzer II 5 bam
EGAD00001000029 Grey Platelet Syndrome (GPS) Illumina Genome Analyzer II 5 srf
EGAD00001000038 Hyperfibrinolysis Illumina Genome Analyzer II 5 bam
EGAD00001000065 Mixed Leukemia Rearrangement Screen Illumina Genome Analyzer II 5 bam
EGAD00001000262 OICR PANCREATIC CANCER DATASET 5 bam
EGAD00001000367 Genomic libraries (500 bps) will be generated from total genomic DNA derived from lung cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions. Illumina HiSeq 2000; 5 bam
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
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
EGAD00001000666 HSC73_clone: Bone marrow mononuclear cells from the healthy 73 years old female were thawed and labeled with Alexa-Fluor 488-conjugated anti-CD34 (581, Biolegend), Alexa-Fluor 700-conjugated anti-CD38 (HIT2, eBioscience), a cocktail of APC-conjugated lineage antibodies consisting of anti-CD4 (RPA-T4), anti-CD8 (RPA-T8), anti-CD11b (ICRF44), anti-CD20 (2H7), anti-CD56 (B159, all BD Biosciences), anti-CD14 (61D3), anti-CD19 (HIB19) and anti-CD235a (HIR2, all eBiocience) and 1 micro-gram/ml propidium iodide (Sigma). Using a BD FACSAria cell sorter, single Lin-CD34+CD38-PI- cells were individually sorted into low-adhesion 96-well tissue culture plates (Corning) containing 100micro-litre of StemSpan Serum-Free Expansion Medium (Stemcell technologies) supplemented with 100ng/ml of human SCF and FLT-3L, 50ng/ml of human TPO, 20ng/ml of human IL-3, IL-6 and G-CSF (all cytokines from Peprotech) and 50U/ml of penicillin and 50μg/ml of streptomycin (Sigma). Cells were incubated at 37 degrees C in a humidified atmosphere with 5% CO2 in air. After 5 days in culture, another 100micro litres of cytokine-containing medium were added. 13 days after seeding, clones B6 and G2 had expanded to approx. 105 cells and were selected for whole genome sequencing (2x101bp, paired-end, Illumina HiSeq2500) after tagmentation-based library preparation (see Extended Experimental Procedures) for clone B6 and standard library preparation for clone G2. For germline-control ~106 unsorted bone marrow mononuclear cells from the same donor were used for sequencing. An average of 30-fold sequence coverage for each the clones and the matching control were obtained. L4clone: A progenitor cell clone was raised from a peripheral blood sample of the 39 year old healthy female. Frozen peripheral blood mononuclear cells (PBMCs) were isolated from 2 ml heparinised peripheral blood via Ficoll Paque density centrifugation. A methylcellulose assay was performed as described earlier (Weisse et al., 2012). In brief, non-adherent mononuclear cells were incubated in the presence of the recombinant human cytokines IL-3, IL-5 and GM-CSF (R&D systems) over 14 days to induce colony formation. Colonies were detected under an inverted light microscope, and plucked by a pipette when colonies had approximately 10,000 cells/CFU. Each colony was washed three times in PBS and finally frozen as a cell pellet in -80 degrees C. Genomic DNA was isolated using the QIAamp DNA micro kit according to the instructions of the manufacturer (Qiagen, Hilden, Germany). Whole genome sequencing (2x101bp, paired-end, Illumina HiSeq2500) was performed for colony 4 after tagmentation-based library preparation and resulted in 15-fold sequence coverage for each the colony and the matching whole blood. 5 bam
EGAD00001000671 Primary sclerosing chloangitis is a rare autoimmune disease of the liver (prevalence = 10/100,000) with a mean age of onset of 40 years. We are currently undertaking GWAS and immunochip experiments to identify loci underlying PSC susceptibility. Through our collaborators at the University of Calgary we have access to DNA from three parent-offspring trios where the children required liver transplants due to PSC before the age of 9. These are extremely rare cases indeed and we believe that exome-sequencing represents a powerful means of identifying the causal mutation underlying this severe phenotype. Illumina HiSeq 2000; 5 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
EGAD00001000755 UK10K_OBESITY_GS UK10K_EXOME_EXTRAS Illumina HiSeq 2000; 5 tabix,vcf
EGAD00001000754 UK10K_RARE_NMWG REL-2013-09-09 Illumina HiSeq 2000; 5 tabix,vcf
EGAD00001000905 DNase-Hypersensitivity data for 5 CD14-positive, CD16-negative classical monocyte sample(s). 5 run(s), 5 experiment(s), 5 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 5 fastq
EGAD00010000686 glioma samples tumor using cytoscan 5
EGAD00001001258 Illumina HiSeq 2000; 5 fastq
EGAD00001001072 Illumina MiSeq; 5 fastq
EGAD00001001080 MDS patients 5 bam
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
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
EGAD00001001155 ChIP-Seq data for 5 alternatively activated macrophage sample(s). 36 run(s), 35 experiment(s), 35 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 5 fastq
EGAD00001001154 ChIP-Seq data for 5 CD8-positive, alpha-beta T cell sample(s). 28 run(s), 28 experiment(s), 28 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 5 fastq
EGAD00001001130 DNase-Hypersensitivity data for 5 CD14-positive, CD16-negative classical monocyte sample(s). 5 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 5 fastq
EGAD00001001192 Bisulfite-Seq data for 5 macrophage sample(s). 72 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 5 bam,readme_file
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 5 fastq
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 5 fastq
EGAD00001001513 ChIP-Seq data for 5 CD8-positive, alpha-beta T cell sample(s). 26 run(s), 26 experiment(s), 26 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_chipseq_analysis_ebi_20150820 5 fastq
EGAD00001001562 ChIP-Seq data for 5 Chronic lymphocytic leukemia sample(s). 24 run(s), 23 experiment(s), 23 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_chipseq_analysis_ebi_20150820 5 fastq
EGAD00001001498 Bisulfite-Seq data for 5 alternatively activated macrophage sample(s). 79 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_bisulphite_analysis_CNAG_20150820 5 bam
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
EGAD00001002109 TSACP TruSeq Amplicon Panel dataset for the TraIT cell line use case 5
EGAD00001002071 qDNAseq shallow sequencing dataset of the cell line use case. 5
EGAD00001000111 CML Discovery Project Illumina Genome Analyzer II 6 bam
EGAD00001000040 Bleeding Illumina Genome Analyzer II 6 bam
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. Illumina HiSeq 2000; 6
EGAD00001000063 Triple Negative Breast Cancer sequencing Illumina Genome Analyzer II 6 bam
EGAD00001000072 Fanconi Anemia transformation to AML Illumina HiSeq 2000 6 bam
EGAD00001000102 Myeloproliferative Disorder Sequencing Illumina Genome Analyzer II 6 bam
EGAD00001001870 Deep sequencing of 151 cancer genes in 6 synchronous CRC of 3 patients Illumina MiSeq; 6 bam
EGAD00001000033 "SNV detection from formalin fixed paraffin embedded (FFPE) samples" Illumina Genome Analyzer II 6 bam
EGAD00001000136 CML blast phase rearrangement screen Illumina HiSeq 2000 6 bam
EGAD00010000377 DNA methylation analysis of 6 primary lymphoma samples HumanMethylation450k Bead Chip - Genome Studio 6
EGAD00001000281 ICGC MMML-seq Data Freeze November 2012 transcriptome sequencing Illumina HiSeq 2000; 6 bam
EGAD00001000064 Cell Line Sub Clone Rearrangement Screen Illumina Genome Analyzer II 6 bam
EGAD00001000121 Breast Cancer Whole Genome Sequencing Illumina HiSeq 2000 6 bam
EGAD00001000019 Lethal malformation syndrome Illumina Genome Analyzer II 6 srf
EGAD00001000112 Identifying Novel Fusion Genes in Myeloma Illumina Genome Analyzer II 6 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
EGAD00001000177 Whole Genome Methylation in CLL Illumina Genome Analyzer IIx; 6 fastq
EGAD00001000088 ER-, HER2-, PR- breast Cancer genome sequencing Illumina Genome Analyzer II 6 bam
EGAD00001000248 RNAseq Pulldown Illumina HiSeq 2000; 6 bam
EGAD00001000394 DNA methylation has been shown to play a major role in determining cellular phenotype by regulating gene expression. Moreover, dysregulation of differentially methylated genes has been implicated in disease pathogenesis of various conditions including cancer development as well as autoimmune diseases such as systemic Lupus erythematosus and rheumatoid arthritis. Evidence is rapidly accumulating for a role of DNA methylation in regulating immune responses in health and disease. However, the exact mechanisms remain unknown. The overall aim of the project is to investigate the role of epigenetic mechanisms in regulating immunity and their impact on autoimmune disease pathogenesis. The aim of this pilot study is to perform whole genome methylation analysis in peripheral blood mononuclear cells (PBMCs) and cell subsets (CD4, CD8, CD14, CD19, CD16 and whole PBMCs) obtained from 6 healthy volunteers. Whole genome methylation analysis will be performed using two methodological approaches, the Infinium Methylation Bead Array K450 (Illumina) and MeDIP-seq. mRNA expression arrays will also be performed in order to correlate DNA methylation with gene expression as well as genotyping on the Illumina OmniExpress chip Illumina Genome Analyzer II; 6 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
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
EGAD00001001292 McGill EMC Release 4 for assay "smRNA-seq": Transcriptome profiling by high-throughput sequencing Illumina HiSeq 2500; 6 fastq
EGAD00001000828 Fibroblasts have been shown to re-program into induced pluripotent stem (hiPS) cells, through over-expression of pluripotency genes. These hiPS cells show similar characteristics to embryonic stem cells including cell surface markers, epigenetic changes and ability to differentiate into the three germ layers. However it is unclear as to the extent of changes in gene expression through the re-programming process.. 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; 6 bam
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
EGAD00001000941 Bisulfite-Seq data for 6 CD14-positive, CD16-negative classical monocyte sample(s). 86 run(s), 6 experiment(s), 6 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 6 bam,readme_file
EGAD00001000935 Bisulfite-Seq data for 6 mature neutrophil sample(s). 79 run(s), 6 experiment(s), 6 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 6 bam,readme_file
EGAD00001000948 A comparison of the somatic variation present in a primary colorectal tumour and three different liver metastases from the same patient. Illumina HiSeq 2000; 6 cram
EGAD00001001031 These are only the whole exome sequences Illumina HiSeq 2500; 6 bam
EGAD00001002196 Our lab is currently using macrophages as a model system for understanding how genetic variation modulates the response to external environmental stimulus. We want to extend this beyond regular polyadenylated RNA to small RNAs such as miRNAs. This project would cover the costs of a pilot to study miRNA response to LPS stimulus, and will be performed as part of a rotation project in the lab. We will require a small number of miRNA libraries and a single lane of MiSeq Illumina MiSeq; 6
EGAD00001001930 Cancer genes can affect ribosomal RNA processing and this can underlie their essentiality to cells, making them cell-essential in the same way as ribosomal genes themselves. We want to confirm this, in order to understand the results of our CRISPR drop-out screens. NOTE FROM BESPOKE TEAM: Run a single read 1 (forward read) of 30 bases, then an index 1 read as normal. This would fit a 50cycle kit Illumina MiSeq; 6 cram
EGAD00001001359 Dataset contains Exome-seq and RNA-seq from 2 GBM patients, as well as RNA-seq from the derived cultured cells (GNS). 6 bam
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
EGAD00001001204 ChIP-Seq data for 6 inflammatory macrophage sample(s). 35 run(s), 35 experiment(s), 35 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 6 fastq
EGAD00001001138 ChIP-Seq data for 6 Acute promyelocytic leukemia sample(s). 25 run(s), 23 experiment(s), 23 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 6 fastq
EGAD00001001206 Bisulfite-Seq data for 6 CD14-positive, CD16-negative classical monocyte sample(s). 86 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 6 bam,readme_file
EGAD00001001201 Bisulfite-Seq data for 6 mature neutrophil sample(s). 79 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_bisulphite_analysis_CNAG_20140811 Illumina HiSeq 2000; 6 bam,readme_file
EGAD00001001344 Data from the study of subclonal metastatic expansion in prostate cancer. Whole genome shotgun sequencing of six samples, tumour and whole blood, from the three additional patients whose somatic variants were examined in depth. Illumina HiSeq 2000; 6 fastq
EGAD00001001428 Identification of human deubiquitylating enzymes whose knock out result in hypersensitivity to DNA damaging agents, by comparing the sequence reads of 'barcode region' from mixed cell culture. Illumina HiSeq 2000; 6 cram
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
EGAD00001001519 ChIP-Seq data for 6 naive B cell sample(s). 34 run(s), 28 experiment(s), 28 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_chipseq_analysis_ebi_20150820 6 fastq
EGAD00001001490 ChIP-Seq data for 6 Acute promyelocytic leukemia sample(s). 29 run(s), 27 experiment(s), 27 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_chipseq_analysis_ebi_20150820 6 fastq
EGAD00001001594 ChIP-Seq data for 6 CD38-negative naive B cell sample(s). 20 run(s), 20 experiment(s), 20 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_chipseq_analysis_ebi_20150820 6 fastq
EGAD00001001482 Bisulfite-Seq data for 6 Acute Myeloid Leukemia sample(s). 66 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_bisulphite_analysis_CNAG_20150820 6 bam
EGAD00001001491 Bisulfite-Seq data for 6 inflammatory macrophage sample(s). 83 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_bisulphite_analysis_CNAG_20150820 6 bam
EGAD00001001585 Bisulfite-Seq data for 6 mature neutrophil sample(s). 79 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_bisulphite_analysis_CNAG_20150820 6 bam
EGAD00001001449 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. 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
EGAD00001001626 RNA-Seq Illumina GAII dataset for the TraIT cell-line use case (added reverse and forward reads). Illumina Genome Analyzer II; 6 bam,fastq
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
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; 6
EGAD00001002181 Barrett?s oesophagus is common in the UK affecting 2 % of the population. Family history has been recorded among the 4000 Barrett's cases collected so far and have 241 families. Among them we have assessed 6 multiplex families with proven Barrett?s and defined as having 1 pro band and at least 3 affected first degree members. We propose to exome sequence the probands of these six families to assess the presence of pathogenic rare coding variants. Illumina HiSeq 2000; 6
EGAD00001002211 Given the central importance of Africa to studies of human origins, genetic diversity and disease susceptibility, large-scale and representative characterisation of genetic diversity in Africa is needed. Analyses of ancient DNA from Africa would complement sequencing of modern African populations and provide unique opportunities to transform our understanding of the pre-history of the region. This approach would greatly refine our understanding of population structure and gene flow in Africa and globally, including genetic signatures of ancient admixture. This low coverage sequencing experiment will allow us to test and refine our pipeline for ancient DNA 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/ Illumina HiSeq 2000; 6
EGAD00001000003 Gencode Exome Pilot Illumina Genome Analyzer II 7 srf
EGAD00001000383 In collaboration with Dr Robert Semple we have identified a family harbouring an autosomal dominant variant, which leads to severe insulin resistance (SIR), short stature and facial dysmorphism. This family is unique within the SIR cohort in having normal lipid profiles, preserved adiponectin and normal INSR expression and phosphorylation. DNA is available for 7 affected and 7 unaffected family members across 3 generations. All 14 samples have been genotyped using microsatellites and the Affymetrix 6.0 SNP chip. Linkage analysis identified an 18.8Mb haplotype on chromosome 19 as a possible location of the causative variant. However, Exome sequencing of 3 affected and 1 unaffected family members has not identified the causative variant suggesting the possibility of an intronic or intergenic variant in this region or elsewhere in the genome. We propose to conduct whole genome sequencing of 5 members of the pedigree at a depth of 20X. The chosen samples are two sets of parents plus one member of an unaffected branch of the pedigree who shares the risk haplotype on chromosome 19. Sequencing of the two sets of parents will be used along with the genome-wide SNP data to impute 4 affected children giving an effect sample size of 6 affected individuals. Illumina HiSeq 2000; 7 bam
EGAD00001000037 An evaluation of different strategies for large-scale pooled sequencing study design. Illumina Genome Analyzer II 7 bam,srf
EGAD00001000041 Various Platelet Disorders Illumina Genome Analyzer II 7 bam
EGAD00001000352 DATA FILES FOR SJLGG Illumina HiSeq 2000; 7 bam
EGAD00001000365 In this study we analysed patients with metastatic prostate cancer to scan their tumor genomes noninvasively in plasma DNA. We enriched 1.3 Mbp of seven plasma DNAs (4 CRPC cases: CRPC1-3 and CRPC5; 3 CSPC cases: CSPC1-2 and CSPC4) including exonic sequences of 55 cancer genes and 38 introns of 18 genes, where fusion breakpoints have been described using Sure Select Custom DNA Kit. Illumina MiSeq; 7 fastq
EGAD00001000362 Human induced pluripotent stem (hiPS) cells hold great promise for regenerative medicine. Safety issues of use of hiPS cells however remain to be addressed. One of such issues is mutations derived from somatic donor cells and introduced during genome manipulation. We sequence whole genomes of hiPS cells and analyzed mutations. Our study brings hiPS cell technology one step closer to application to regenerative medicine. Illumina HiSeq 2000; 7 bam
EGAD00010000488 Chondroblastoma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6- 7
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
EGAD00001000630 In this study we will sequence the transcriptome of Verified Matched Pair Cancer Cell line tumour samples. This will be married up to whole exome and whole genome sequencing data to establish a full catalog of the variations and mutations found. Illumina HiSeq 2000; 7 bam
EGAD00001000735 Here we present the genomes of three secondary angiosarcomas Illumina HiSeq 2000; 7 bam
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
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
EGAD00001000930 ChIP-Seq data for 7 mature neutrophil sample(s). 68 run(s), 50 experiment(s), 50 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 7 fastq
EGAD00001001247 DATA FILES FOR PCGP SJMEL RNASEQ Illumina HiSeq 2000; 7 bam
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
EGAD00001001188 ChIP-Seq data for 7 Acute myeloid leukemia sample(s). 23 run(s), 23 experiment(s), 23 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 7 fastq
EGAD00001001147 ChIP-Seq data for 7 CD4-positive, alpha-beta T cell sample(s). 46 run(s), 45 experiment(s), 45 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 7 fastq
EGAD00001001149 ChIP-Seq data for 7 mature neutrophil sample(s). 78 run(s), 60 experiment(s), 60 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 7 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
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
EGAD00001001423 Illumina HiSeq 2000; 7 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 7 fastq
EGAD00001001589 ChIP-Seq data for 7 inflammatory macrophage sample(s). 36 run(s), 36 experiment(s), 36 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_chipseq_analysis_ebi_20150820 7 fastq
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 7 fastq
EGAD00001001505 ChIP-Seq data for 7 CD4-positive, alpha-beta T cell sample(s). 39 run(s), 39 experiment(s), 39 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_chipseq_analysis_ebi_20150820 7 fastq
EGAD00001001591 Bisulfite-Seq data for 7 CD14-positive, CD16-negative classical monocyte sample(s). 101 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_bisulphite_analysis_CNAG_20150820 7 bam
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
EGAD00001001056 Illumina HiSeq 2000; 7 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
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
EGAD00001000261 Retinoblastoma whole genome sequencing Illumina HiSeq 2000; 8 bam
EGAD00001000259 DATA FILES FOR SJAMLM7 Illumina HiSeq 2000; 8 bam
EGAD00001000225 Deep sequencing of KRAS 454 GS FLX Titanium; 8 fastq
EGAD00001000176 DATA_SET_Comparing_sequencing_four_proto-typical_Burkitt_lymphomas_BL_IG-MYC_translocation Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 8 bam
EGAD00001000363 Common variable immunodeficiency (CVID) is the most common form of primary immunodeficiency with an estimated incidence of 1:10,000. It has been apparent for many years that CVID has a genetic component, occurs frequently in families and can have both a recessive or dominant mode of inheritance. In recent years, 4 genes underlying CVID have been identified; however, mutations within in them are estimated to account for no more than 10% of all cases of CVID. We have identified a multi-generational family with autosomal dominant CVID. Genome-wide linkage analysis has mapped the locus underlying CVID in this family to an approximately 9.2 Mb interval on chromosome 3q27.3-q29, between the markers D3S3570 and D3S1265. This locus is distinct from any of the previously mapped susceptibility loci suggesting a novel genetic variant is responsible for disease in this family. The aim of this study is to use exome sequencing of affected (n = 4) and unaffected (n = 4) individuals, in tandem with the available genetic mapping data, to identify the causal variant underlying CVID in this family. Illumina HiSeq 2000; 8 bam
EGAD00001000027 ICGC Germany PedBrain Medulloblastoma Pilot_2_LM Illumina HiSeq 2000, Illumina Genome Analyzer IIx 8 bam
EGAD00001000197 Progressive Hearing Loss Illumina Genome Analyzer II; 8 bam
EGAD00001000304 ICGC prostate cancer miRNA sequencing Illumina HiSeq 2000; 8 fastq
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
EGAD00001000655 DATA FILES FOR Histone-NSD2_RNASeq Illumina HiSeq 2000; 8 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
EGAD00001000722 Extension of angiosarcoma whole genome sequencing study Illumina HiSeq 2000; 8 cram
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
EGAD00001000399 In 2009 we identified a four-generation family with over 700 members and 41 affected with Crohn's disease (CD). At the time we sequenced the exome of 6 affected individuals but did not identify any coding variants which appear to explain the high prevalence of disease. Since then we have collected DNA from a large number of additional family members, genotyped linkage arrays on the entire family to refine genomic regions shared by identity by descent and genotyped affected and unaffected members at known CD risk loci identified by Genome Wide Association Studies (GWAS). These analyses have confirmed that a significant unexplained excess of disease remains after accounting for all known genetic factors, and that several regions of the genome are shared by a large fraction of affected individuals. We therefore perform whole genomes sequencing from 8 individuals which will allow us to impute the complete sequence of nearly all the members of the two largest and most severely affected branches of the family. Illumina HiSeq 2000; 8 bam
EGAD00001000835 Illumina HiSeq 2000; 8 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
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
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
EGAD00001000952 DNA methylation profiling of 8 control samples from adult (4) and fetal brain (4) Illumina HiSeq 2000; 8 fastq
EGAD00001001010 Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2 Ion Torrent Proton; 8 bam
EGAD00010000606 SNP6 data for matched normal samples 8
EGAD00010000608 SNP6 data for seminoma samples 8
EGAD00001001043 Illumina HiSeq 2000; 8 bam
EGAD00010000666 Purified plasma cells from tonsil of Healthy donor 8
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
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
EGAD00001001276 McGill EMC Release 4 for cell type "induced pluripotent stem cell" Illumina HiSeq 2500; 8 fastq
EGAD00001001348 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 8 bam,cram
EGAD00001001350 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 8 bam,cram
EGAD00001001418 DATA FILES FOR PCGP Dyer_iPSC 5hmc Illumina HiSeq 2000; 8 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 8 fastq
EGAD00001001575 Bisulfite-Seq data for 8 macrophage sample(s). 117 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_bisulphite_analysis_CNAG_20150820 8 bam
EGAD00001002201 Data for paper: Epigenetic dynamics of monocyte to macrophage differentiation with Chip Seq, NOMe, mRNA, total RNA, noncoding RNA, whole genome bisulfite seq, Illumina HiSeq 2000; 8
EGAD00001002226 1. Odors are detected, firstly, by olfactory sensory neurons (OSNs) in the olfactory epithelium of the nose. This neurons then project directly to the olfactory bulb in the brain. Olfaction depends on cellular regeneration of the OE, olfactory bulb and hippocampus, and on their continual re-wiring. The olfactory neural pathway includes regions of the frontal, temporal and limbic brain, which in turn overlap with brain areas involved in brain disorders. OSNs are the only aspect of the human brain exposed to the external environment. This not only makes them vulnerable to environmental changes, but also accessible for biomedical studies. We have already sequenced and developed a protocol for analyzing the transcriptome of mouse main olfactory epithelium and single OSNs. We propose here to perform a similar study for samples from the human olfactory epithelium. We have developed a minimally invasive method for obtaining human OSNs, among other cells from the nasal epithelium. In this experiment, we have obtained cell samples from the olfactory epithelium, including OSN, from healthy volunteers. We would like to further characterize them by RNA sequencing. This will give us valuable insight into human olfaction. It will also provide a first step into a new avenue to study, and find biomarkers for, brain diseases though the analysis of these easily available neurons. 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; 8
EGAD00001002150 Low coverage whole genome sequencing for the identification of somatic copy number alterations (SCNA) and focal amplification mapping of corresponding tumor material Illumina MiSeq; 8
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
EGAD00001000095 Acute Myeloid Leukemia Sequencing Illumina Genome Analyzer II 9 bam
EGAD00001000345 Exome sequencing of 12 DNA samples obtained from patients with structural brain malformations. Illumina HiSeq 2000; 9 bam
EGAD00001000035 "Single nucleotide variant detection in multiple foci of three prostate cancer tumors" Illumina Genome Analyzer II 9 bam
EGAD00001000036 "Copy number variant detection in multiple foci of three prostate cancer tumors" Illumina Genome Analyzer II 9 bam
EGAD00001000658 Changes in gene dosage are a major driver of cancer1, engineered from a finite, but increasingly well annotated, repertoire of mutational mechanisms2-6. These processes operate over levels ranging from individual exons to whole chromosomes, often generating correlated copy number alterations across hundreds of linked genes. An example of the latter is the 2% of childhood acute lymphoblastic leukemia (ALL) characterized by recurrent intrachromosomal amplification of megabase regions of chromosome 21 (iAMP21)7,8 To dissect the interplay between mutational processes and selection on this scale, we used genomic, cytogenetic and transcriptional analysis, coupled with novel bioinformatic approaches, to reconstruct the evolution of iAMP21 ALL. We find that individuals born with the rare constitutional Robertsonian translocation between chromosomes 15 and 21, rob(15;21)(q10;q10)c, have ~2700-fold increased risk of developing iAMP21 ALL compared to the general population. In such cases, amplification is initiated by chromothripsis involving both sister chromatids of the dicentric Robertsonian chromosome. In contrast, sporadic iAMP21 is typically initiated by breakage-fusion-bridge (BFB) events, often followed by chromothripsis or other rearrangements. In both sporadic and iAMP21 in rob(15;21)c individuals, the final stages of amplification frequently involve large-scale duplications of the abnormal chromosome. The end-product is a derivative chromosome 21 or a derivative originating from the rob(15;21)c chromosome, der(15;21), respectively, with gene dosage optimised for leukemic potential, showing constrained copy number levels over multiple linked genes. In summary, the constitutional translocation, rob(15;21)c, predisposes to leukemia through a novel mechanism, namely a propensity to undergo chromothripsis, likely related to its dicentric nature. More generally, our data illustrate that several cancer-specific mutational processes, applied sequentially, can co-ordinate to fashion copy number profiles over large genomic scales, incrementally refining the fitness benefits of aggregated gene dosage changes. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 9 bam
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
EGAD00001000913 ChIP-Seq data for 9 CD14-positive, CD16-negative classical monocyte sample(s). 59 run(s), 55 experiment(s), 55 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 9 fastq
EGAD00001001243 Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci. Illumina HiSeq 2000; 9 bam,fastq
EGAD00001001889 ***THIS DATA CAN ONLY BE USED FOR NON-COMMERCIAL CANCER RESEARCH*** Sequencing of organoid cell lines derived from oesophageal tumour sections taken from patients diagnosed with primary oesophageal cancer who underwent tumour resection surgery. HiSeq X Ten; 9 cram
EGAD00001001890 This study is to look at the effect of Myc and oxygen conditions on mutational signatures, to help establish causative roles for particular signatures. HiSeq X Ten; 9 cram
EGAD00001001508 ChIP-Seq data for 9 mature neutrophil sample(s). 48 run(s), 45 experiment(s), 45 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_chipseq_analysis_ebi_20150820 9 fastq
EGAD00001001552 ChIP-Seq data for 9 CD14-positive, CD16-negative classical monocyte sample(s). 56 run(s), 53 experiment(s), 53 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_chipseq_analysis_ebi_20150820 9 fastq
EGAD00001001305 Dataset contains WES data from 3 astrocytoma patients: blood as control, primary tumor and recurrent tumor 9 bam
EGAD00001002206 Globally, human populations show structured genetic diversity as a result of geographical dispersion, selection and drift. Understanding this genetic variation can provide insights into the evolutionary processes that shape both human adaptation and variation in disease. Populations from Africa have the highest levels of genetic diversity. This characteristic, in addition to historical genetic admixture, can lead to complexities in the design of studies assessing the genetic determinants of disease and human variation. However, such studies of African populations are also likely to provide new opportunities to discover novel disease susceptibility loci and variants and refine gene-disease association signals. A systematic assessment of genetic diversity within Africa would facilitate genomic epidemiological studies in the region. The GDA Project focus on sequencing the whole genome of less studied, genetically diverse groups within Africa with the objective of detailed characterisation of genetic variation within Africa. As part of this effort we propose to sequence at high depth (30x) on the Illumina X Ten platform nine individuals, including family trios wherever possible, from three distinct ethno-linguistic groups. This set of nine high depth genomes will serve as a high-confidence set to validate calling and filtering of variants in lower depth data. Additionally, it will complement existing data from the Human Genome Diversity Project (HGDP). A family-based design might also serve other projects (e.g. estimating TMRCA or mutation rate). HiSeq X Ten; 9
EGAD00001000100 Renal Matched Pair Cell Line Exome Sequencing Illumina Genome Analyzer II 10 bam
EGAD00001000271 Pilot study Pilocytic Astrocytoma ICGC PedBrain, whole genome sequencing of 5 tumors and matched blood Illumina HiSeq 2000; 10 bam
EGAD00001000054 Mutational Screening of Human Acute Myleloid Leukaemia Samples Illumina HiSeq 2000 10 bam
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
EGAD00001000275 Data set for Whole-genome-Sequencing of adult medulloblastoma Illumina HiSeq 2000; 10 bam
EGAD00001000276 OICR PANCREATIC CANCER DATASET 2 10 bam
EGAD00001000203 Otosclerosis gene discovery Illumina HiSeq 2000; 10 bam
EGAD00001000204 Hearing loss in adults from South Carolina Illumina HiSeq 2000; 10 bam
EGAD00001000605 CR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. 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;, Illumina HiSeq 2000; 10 bam
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
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
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
EGAD00001000833 Illumina HiSeq 2000; 10 bam
EGAD00001000874 Indel/point mutation of chondrosarcoma 10 vcf
EGAD00001000873 Fastq files of 10 samples of condrosarcoma Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 10 fastq
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
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
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
EGAD00010000654 Control samples using SNP 6.0 Arrays 10
EGAD00001001179 ChIP-Seq data for 10 CD14-positive, CD16-negative classical monocyte sample(s). 73 run(s), 69 experiment(s), 69 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000; 10 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
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
EGAD00001001218 10 bam
EGAD00001001220 Illumina HiSeq 1000; 10 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
EGAD00001001613 10 bam
EGAD00001001615 10 bam
EGAD00001001646 Fastq files corresponding to RNA-Seq dataset for PTPN1 project (EGAS00001000554) Illumina Genome Analyzer II;, Illumina HiSeq 2000;, Illumina Genome Analyzer; 10 fastq
EGAD00001001891 Whole genome bisulfite sequencing of pedbrain - medulloblastoma Illumina HiSeq 2000; 10 fastq
EGAD00001000884 In order to elucidate whether newly acquired genetic alterations during serial transplantation of patient derived primary pancreatic cancer cultures contribute to the observed clonal dynamics in vivo, all coding genes of two patient derived primary cultures and derived genetically marked serial xenografts (1°/2°/3°) were sequenced. Illumina HiSeq 2000; 10 fastq
EGAD00001002210 Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). To date, only a single recessive gene underlying complete anosmia has been identified. Here we sequenced the exomes of 10 individuals from a single family, including three with complete anosmia, across three generations to identify the genetic basis of congenital anosmia in this family. 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; 10
EGAD00010000678 Tumor sample SNP arrays Illumina SNP array 11
EGAD00001000881 RNA sequencing of Resistant BCC samples. Illumina HiSeq 2000; 11 fastq
EGAD00001000002 Massive genomic rearrangement acquired in a single catastrophic event during cancer development 11
EGAD00001000214 Whole genome sequencing of colon samples Illumina HiSeq 2000; 11 fastq
EGAD00001000023 Recurrent Somatic Mutations in CLL Illumina Genome Analyzer IIx 11 fastq
EGAD00001000039 Platelet collagen defect Illumina HiSeq 2000, Illumina Genome Analyzer II 11 bam
EGAD00001000073 MDSMPN Rearrangement Screen Illumina HiSeq 2000, Illumina HiSeq 2000; 11 bam
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
EGAD00001000990 mRNA-Seq on total RNA from primary osteoblastomas and phosphaturic mesenchymal tumours, focussing on fusion transcript expression Illumina HiSeq 2000; 11 cram
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 11 fastq
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
EGAD00001001862 RNA-seq of PDXs Illumina HiSeq 2000; 12 fastq
EGAD00001000154 Single-cell genome sequencing reveals DNA-mutation per cell cycle Illumina HiSeq 2000, Illumina Genome Analyzer II 12 bam,srf
EGAD00001000278 ICGC MMML-seq Data Freeze November 2012 whole genome sequencing Illumina HiSeq 2000; 12 bam
EGAD00001000289 Agilent whole exome hybridisation capture was performed on genomic DNA derived from cancer and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products. Illumina HiSeq 2000; 12 bam
EGAD00001000252 Evaluation of PCR library method on whole genome samples Illumina HiSeq 2000; 12 bam
EGAD00001000305 ICGC prostate cancer RNA sequencing Illumina HiSeq 2000; 12 fastq
EGAD00001000337 Illumina RNA-Seq will be performed on four Ewing's sarcoma cell lines and two control cell lines. RNA was extracted from all the lines using a basic Trizol extraction protocol. Illumina HiSeq 2000; 12 bam
EGAD00001000632 AB SOLiD 4 System; 12 SOLiD_native_csfasta,SOLiD_native_qual,bam
EGAD00001000659 Illumina HiSeq 2000; 12 bam
EGAD00001000675 RNA-seq for monocytes and neutrophils Illumina HiSeq 2000; 12 fastq
EGAD00001000673 WGBS-seq for monocytes and neutrophils Illumina HiSeq 2000; 12 bam,readme_file
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
EGAD00010000514 Case samples using SNP 6.0 Array GenomeWideSNP_6-BirdseedV2 12
EGAD00010000510 Matched control samples using HumanOmni1-Quad GenomeWideSNP_6-BirdseedV2 12
EGAD00010000512 Case samples using HumanOmni1-Quad GenomeWideSNP_6-BirdseedV2 12
EGAD00001000713 Illumina HiSeq 2000; 12 bam
EGAD00001000692 Files associated with the dataset: HS1626.bam, HS1484.bam, HS1483.bam, HS1482.bam, HS1481.bam, HS1480.bam, HS1479.bam, HS1478.bam, A13805.bam, A13800.bam, A13799.bam, A05253.bam, A05252.bam, A13806.bam Illumina Genome Analyzer II;, Illumina HiSeq 2000;, Illumina Genome Analyzer; 12 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
EGAD00001000749 Illumina HiSeq 2000; 12 bam
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
EGAD00001001266 Whole genome sequencing of primary angiosarcoma HiSeq X Ten; 12 cram
EGAD00001000843 Illumina HiSeq 2000; 12 fastq
EGAD00001001003 Exome sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families. Illumina HiSeq 2000; 12 fastq
EGAD00001000896 Illumina HiSeq 2000; 12 bam
EGAD00001001032 DATA FILES FOR SJMEL-WGS Illumina HiSeq 2000; 12 bam
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
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
EGAD00001001345 Data from the study of subclonal metastatic expansion in prostate cancer. RNA-seq of twelve samples, tumour and benign tissue, from the four initial patients. Illumina HiSeq 2000; 12 fastq
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
EGAD00001001439 Mammary cell samples from donors 28/32/33. Contains 12 MiSeq sequence files and 12 alignment files derived from HiSeq runs. Illumina MiSeq; 12 fastq
EGAD00001001576 ChIP-Seq data for 12 macrophage sample(s). 49 run(s), 49 experiment(s), 49 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_chipseq_analysis_ebi_20150820 12 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
EGAD00001001668 Data from the paper Context-specific Effects of TGFβ/SMAD3 in Cancer Are Modulated by the Epigenome. Tufegdzic et al, Cell Reports 2015 Illumina HiSeq 2500; 12 bam
EGAD00001001667 Data from the paper Context-specific Effects of TGFβ/SMAD3 in Cancer Are Modulated by the Epigenome. Tufegdzic et al, Cell Reports 2015 Illumina MiSeq; 12 bam
EGAD00010000508 Matched control samples using SNP 6.0 Array GenomeWideSNP_6-BirdseedV2 12
EGAD00001001659 Genome-wide analysis of mutations induced by ionizing radiation in human cells in different conditions. HiSeq X Ten; 12 cram
EGAD00001001676 Tagmentation-based whole-genome bisulfite sequencing of isolated cell types from healthy controls. Illumina HiSeq 2000; 12 fastq
EGAD00001001914 RNA-seq data for mesothelioma cell lines after spliceostatin (SSA) or control (DMSO) treatment. Illumina HiSeq 2000; 12 fastq
EGAD00001001995 Whole genome sequencing (30X) using Hiseq X TEN on 4 HCC cell lines, primary HCCs and early-passage PDCs. HiSeq X Ten; 12
EGAD00001002016 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: LICA-FR. 12
EGAD00001002148 Directed differentiation of stem cells offers a scalable solution to the need for human cell models recapitulating islet biology and T2D pathogenesis. We profiled mRNA expression at six stages of an induced pluripotent stem cell (iPSC) model of endocrine pancreas development from two donors, and characterized the distinct transcriptomic profiles associated with each stage. Established regulators of endodermal lineage commitment, such as SOX17 (log2 fold change [FC] compared to iPSCs=14.2, p-value=4.9x10-5) and the pancreatic agenesis gene GATA6 (log2 FC=12.1, p-value=8.6x10-5), showed transcriptional variation consistent with their known developmental roles. However, these analyses highlighted many other genes with stage-specific expression patterns, some of which may be novel drivers or markers of islet development. For example, the leptin receptor gene, LEPR, was most highly expressed in published data from in vivo-matured cells compared to the endocrine pancreas-like cells (log2 FC=5.5, p-value=2.0x10-12), suggesting a role for the leptin pathway in the maturation process. Endocrine pancreas-like cells showed significant stage-selective expression of adult islet genes, including INS, ABCC8, and GLP1R, and enrichment of relevant GO-terms (e.g. “insulin secretion”; odds ratio=4.2, p-value=1.9x10-3): however, principal component analysis indicated that in vitro-differentiated cells were more immature than adult islets. Integration of the stage-specific expression information with genetic data from T2D genome-wide association studies revealed that 46 of 82 T2D-associated loci harbor genes present in at least one developmental stage, facilitating refinement of potential effector transcripts. Together, these data show that expression profiling in an iPSC islet development model can further understanding of islet biology and T2D pathogenesis. Illumina HiSeq 2000; 12
EGAD00001002116 Raw data (fastq files) from whole exome sequencing of AML patients (paired diagnosis and complete remission samples) Illumina HiSeq 2000; 12
EGAD00010000921 samples using Affymetrix CYTOSCANHD CYTOSCANHD 12
EGAD00001000076 CRLF2 sequencing project Illumina HiSeq 2000 13 bam
EGAD00001000050 Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes Illumina Genome Analyzer II 13 bam
EGAD00001001196 ChIP-Seq data for 13 macrophage sample(s). 55 run(s), 55 experiment(s), 55 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_chipseq_analysis_ebi_20140811 Illumina HiSeq 2000;, NextSeq 500; 13 fastq
EGAD00001001248 DATA FILES FOR PCGP SJETP WXS Illumina HiSeq 2000; 13 bam
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
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
EGAD00001000085 Somatic Histone H3 mutations Illumina HiSeq 2000 14 bam
EGAD00001000005 Various Cancer Fusion Gene Sequencing Illumina Genome Analyzer II;, Illumina Genome Analyzer II 14 bam,srf
EGAD00001000062 ADCC Rearrangement Screen Illumina HiSeq 2000, Illumina Genome Analyzer II 14 bam,srf
EGAD00001000620 A bespoke targeted pulldown experiment will be performed on patients with Angiosarcoma. the resulting products will be sequenced to determine the prevalence of previously found mutations in these patients. Illumina HiSeq 2000; 14 bam
EGAD00001000646 A selection of human cancers harbours somatic driver mutations in genes encoding histones, most notably childhood brain tumours with K27M substitutions of the histone 3.3 gene, H3F3A. We performed whole genome sequencing of the benign cartilage tumour, chondroblastoma, and targeted sequencing of histone 3.3 genes, H3F3A and H3F3B, in seven further skeletal tumour types. We identified an exceptionally high prevalence of novel histone 3.3 driver mutations at glycine 34 and at lysine 36. Histone 3.3 gene mutations were found in 91% in giant cell tumours of bone (48/53), mainly H3F3A G34W variants, and in 92% of chondroblastoma (73/79), predominantly K36M mutations in H3F3B. H3F3B is paralogous to the cancer gene H3F3A. However, H3F3B driver variants have not previously been reported in human cancer. Our observation demonstrate remarkable tumour-specificity of mutations, with respect to which histone 3.3 gene and residue is mutated, indicating that the advantage these mutations confer is tumour dependent. Moreover, tumour-specific mutation of H3F3A and H3F3B suggests, that although both genes encode identical proteins, they are likely non-redundant and employed differentially during skeletal development. Illumina HiSeq 2000; 14 bam
EGAD00010000560 SNP array of 7 HCCs and matched background liver in children with bile salt export pump deficiency Illumina HumanOmniExpress-12 v1. 14
EGAD00001000406 Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive haematological malignancy derived from precursors of plasmacytoid dendritic cells. Due to the rarity of BPDCNs our knowledge of their molecular pathogenesis was until recently confined to observations describing reccurent chromosomal deletions involving chromosomes 5q, 12p, 13q, 6q, 15q and 9. A recent publication went on to delineate the common deleted regions using aCGH and demonstrated that these centred around known tumour suppressor genes including CDKN2A/B (9p21.3), RB1 (12p13.2-14.3), CDKN1B (13q11-q12) and IKZF1 (7p12.2). These mutations are found recurrently in several different cancers and in most cases are thought to be involved in tumour progression rather than initiation. However, the well-defined nature and cellular ontogeny of these neoplasms suggests strongly that they share one or a few characteristic mutations as has been demonstrated for other uncommon but well-defined neoplasms such as Hairy Cell Leukemia (BRAF) and ovarian Granulosa Cell tumours (FOXL2). Illumina HiSeq 2000; 14 bam
EGAD00010000574 Pleuropulmonary blastoma samples using 250K 14
EGAD00001000830 Illumina HiSeq 2000; 14 bam
EGAD00001000676 ChIP-seq for monocytes and neutrophils Illumina HiSeq 2000; 14 fastq
EGAD00001000761 In order to establish copy number profiles from the various samples we prepared libraries and subjected them to whole-genome sequencing at a shallow sequencing depth (0.1x) Illumina MiSeq; 14 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
EGAD00001001198 DNase-Hypersensitivity data for 14 macrophage sample(s). 18 run(s), 14 experiment(s), 14 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_dnaseseq_analysis_20140811 Illumina HiSeq 2000; 14 fastq
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 14 fastq
EGAD00001001609 Maternal Plasma RNA Sequencing for Genomewide Transcriptomic Profiling and Identification of Pregnancy-Associated Transcripts 14 bam
EGAD00001001922 RNA-seq from normal human tissues (2 x 250 bp) Illumina HiSeq 2000; 14 fastq
EGAD00001001124 Our aim is to analyze the genome of human melanoma cell lines and short term culture from human melanoma samples in order to identify genes that confer drug resistance to clinically relevant targeted therapies. We will perform whole-exome sequencing, copy number variation analysis and methylome analysis in a collection of human melanoma cell lines and short term culture that will be then screened for drug sensitivity/resistance through a library of clinically relevant drugs and drug combinations. By the combined analysis of the genomic lesion and the drug sensitivity/resistance profile of different cell lines, we will look for genes whose mutation is associated to the sensitivity or resistance to a specific drug in different samples. Illumina HiSeq 2000; 14
EGAD00001000057 RNA-Seq analysis Illumina Genome Analyzer II 15 Illumina_native_qseq
EGAD00010000050 Matched tumor-negative pancreas tissues Affymetrix SNP 6.0 15
EGAD00010000051 Cell line derived from microdissected primary pancreatic ductal adenocarcinoma tissues Affymetrix SNP 6.0 15
EGAD00001000388 Genomic libraries (500 bps) will be generated from total genomic DNA derived from lung cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions. Illumina HiSeq 2000; 15 bam
EGAD00001000670 A potential and very serious side effect of treating IBD with antiTNFa therapies (the current gold standard) is the development of systemic lupus erythematosis (SLE). This side effect is rare and unpredictable. Out of several thousand cases having received treatment, the University of Calgary have accumulated 12 individuals with full phenotyping and novel serological antibody discovery panel data. We propose to exome sequence these samples in an effort to identify rare highly-penetrant variants that could be underlying this severe phenotype. Illumina HiSeq 2000; 15 bam
EGAD00001000820 Fernandez-Cuesta et al, 2014, Nature Communication, Whole exome sequencing data set Illumina HiSeq 2000; 15 bam
EGAD00001000893 HipSci-WES_REL-2014-05_Whole exome sequencing_healthy volunteers Illumina HiSeq 2000; 15 cram
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
EGAD00001001075 miRNA-seq Cohort of 15 Benign Centroblasts 15 bam
EGAD00001001212 RNAseq profile of purified plasma cells from multiple myeloma patients and tonsils of healthy donors Illumina HiSeq 2000; 15 fastq
EGAD00001001217 15 bam
EGAD00001001343 Data from the study of subclonal metastatic expansion in prostate cancer. Whole genome shotgun sequencing of fifteen samples, tumour and whole blood, from the four initial patients. Illumina HiSeq 2000; 15 fastq
EGAD00001001389 Genome wide CRISPR screen was performed to find resistance to targeted drugs for melanoma and lung Illumina HiSeq 2500; 15 cram
EGAD00001001431 SCLC - RNA sequencing data Publication Peifer et al., 2012, Nature Genetics Illumina HiSeq 2000; 15 fastq
EGAD00001001272 Illumina HiSeq 2000; 15 fastq
EGAD00001001855 This study is interested in lineage tracing of the adrenal gland. It will aid our understanding of phylogenetic relationships and contrasting mutational signatures between multiple functional and non-functional adrenal tumours and geographically sampled adrenal tissue. HiSeq X Ten; 15 cram
EGAD00001002113 Mate pair whole genome sequencing data from 15 pediatric BCP ALL cases. Reference genome: hg19. Alignment: BWA 0.7.9a. NextSeq 500; 15
EGAD00001002135 ChIPseq data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000;, Illumina HiSeq 2500; 15
EGAD00001002137 WGBS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 15
EGAD00001002208 Exome sequencing of short SGA children with IGF-I and insulin resistance. Collaboration with Professor David Dunger, University of Cambridge. Funded by NIHR. Illumina HiSeq 2000; 15
EGAD00001000094 Cancer Genome Libraries Tests Illumina Genome Analyzer II 16 bam
EGAD00001000160 DATA FILES FOR SJACT Illumina HiSeq 2000 16 bam
EGAD00001000348 Exome sequencing of Bilateral Anophthalmia cases- Pilot Study Illumina Genome Analyzer II; 16 bam
EGAD00001000098 FRCC Exome sequencing Illumina Genome Analyzer II 16 bam
EGAD00001000067 Cancer Single Cell Sequencing Illumina HiSeq 2000, Illumina HiSeq 2000; 16 bam,srf
EGAD00001000031 Human Colorectal Cancer Exome Sequencing Illumina Genome Analyzer II 16 srf
EGAD00001000086 Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing Illumina HiSeq 2000 16 bam
EGAD00001000078 ALK inhibitors in the context of ALK-dependent cancer cell lines Illumina HiSeq 2000, Illumina HiSeq 2000; 16 bam,cram
EGAD00001000143 Xenograft Seqeuncing Illumina HiSeq 2000, Illumina HiSeq 2000; 16 bam
EGAD00001000043 RNA-Seq-Dataset Illumina Genome Analyzer IIx 16 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
EGAD00001000791 Exome sequencing of familial and sporadic small cell cancer of ovary cases. Illumina HiSeq 2000;, Illumina HiSeq 2500; 16 fastq
EGAD00001000777 Dataset contains MeDIP-Seq, MRE-Seq and H3K4me3 ChIP-Seq data on 5 GBM patients. 16 bam
EGAD00001000715 Exome sequencing was performed for paired tumor/normal samples from patients with corticotropin-independnet Cushing's syndrome. Tumor DNA was extracted from adrenocortical adenomas and normal DNA was extracted from adjacent adrenal tissues or periphral blood. Illumina HiSeq 2000; 16 bam
EGAD00001000832 Illumina HiSeq 2000; 16 bam
EGAD00001000829 Illumina HiSeq 2000; 16 bam
EGAD00010000544 Cusihg's syndrome tumor samples using 250K Affymetrix 250K Nsp-GTYPE 16
EGAD00010000542 Cusihg's syndrome normal samples using 250K Affymetrix 250K Nsp-GTYPE 16
EGAD00001001002 Exome sequencing data for 8 pairs of seminomas and matched normal Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 16 fastq
EGAD00001001040 This is the complete dataset (exome and genome) for the EGAS00001000974 study. Illumina HiSeq 2500; 16 bam
EGAD00001001104 MMP-seq tumor samples, UDG treated (FASTQ) Illumina MiSeq; 16 fastq
EGAD00001000963 Exome sequencing of sporadic schwannomatosis patients 16 bam
EGAD00001000964 Low-coverage whole genome sequencing of sporadic schwannomatosis patients 16 bam
EGAD00001001581 DNase-Hypersensitivity data for 16 macrophage sample(s). 20 run(s), 16 experiment(s), 16 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_dnaseseq_analysis_20150820 Illumina HiSeq 2000; 16 fastq
EGAD00001001481 ChIP-Seq data for 15 Acute Myeloid Leukemia sample(s). 75 run(s), 72 experiment(s), 72 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_chipseq_analysis_ebi_20150820 16 fastq
EGAD00001000996 Whole exome sequencing data for AML and matched normal samples Illumina HiSeq 2500; 16 bam
EGAD00001001845 Leeds Melanoma Cohort Illumina HiSeq 2000; 16 cram
EGAD00001001947 Cetuximab is a targeted monoclonal antibody against the epidermal growth factor receptor (EGFR) which is used therapeutically for the treatment of KRAS wild-type colorectal cancer (CRC). The Cetuximab sensitive KRAS wild-type CRC cell line NCI-H508 has been treated with a fixed concentration of ENU for 24 hours and then selected with Cetuximab until drug resistant clones were ready to be picked and grown up as sub-clones of the parental cell line. These will have genes causally implicated in cancer sequenced to identify common point mutations in multiple independently derived drug resistant clones as a forward genetic screen for mechanisms of resistance to Cetuximab in CRC. Illumina HiSeq 2000; 16 cram
EGAD00001001948 Cetuximab is a targeted monoclonal antibody against the epidermal growth factor receptor (EGFR) which is used therapeutically for the treatment of KRAS wild-type colorectal cancer (CRC). The Cetuximab sensitive KRAS wild-type CRC cell line NCI-H508 has been treated with a fixed concentration of ENU for 24 hours and then selected with Cetuximab until drug resistant clones were ready to be picked and grown up as sub-clones of the parental cell line. These will have genes causally implicated in cancer sequenced to identify common point mutations in multiple independently derived drug resistant clones as a forward genetic screen for mechanisms of resistance to Cetuximab in CRC Illumina HiSeq 2000; 16 cram
EGAD00001002012 ChIPseq data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. 16
EGAD00001000358 Chondrosarcoma (CHS) is a heterogeneous collection of malignant bone tumours and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1/2 in nearly half of central CHS. However, there has been little systematic genomic analysis of this tumour type and thus the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 cases of CHS. We identified hypermutability of the major cartilage collagen COL2A1 with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition we identified mutations in IDH1/2 (59%), TP53 (20%), the RB1 pathway (27%) and hedgehog signaling (22%). Illumina HiSeq 2000; 17 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
EGAD00001001885 January 2016 update of RNA-Seq data (bams, fastqs) for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2500; 17 fastq
EGAD00001001934 Pilot study for mutagen exposure work to be carried out as part of mutational signatures project. Illumina HiSeq 2500; 17 cram
EGAD00001001958 March 2016 update of whole genome shotgun sequencing data (bam/fastq) 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; 17 fastq
EGAD00001000270 DATA_SET_EOP-PCA-LargeAndSmallTumors1 Illumina HiSeq 2000; 18 bam
EGAD00001000017 PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis. Illumina HiSeq 2000, Illumina Genome Analyzer II 18 bam,srf
EGAD00001000163 DATA FILES FOR SJPHALL Illumina HiSeq 2000 18 bam
EGAD00001000226 Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 18 bam
EGAD00001000001 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma 18
EGAD00001000144 Lung Cancer Whole Genomes Illumina HiSeq 2000, Illumina HiSeq 2000; 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
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
EGAD00010000498 Affymetrix SNP6.0 genotype data for prostate cancer patients Affymetrix_SNP6- 18
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
EGAD00001000822 Whole exome sequencing and miRNA-seq data of PPB. Illumina MiSeq;, Illumina HiSeq 2000; 18 bam
EGAD00001001265 Genomic architecture of mesothelioma parent study is project 925. This project is set up in parallel to project 925 in order to Whole genome sequence ten of the 59 tumours in that project. HiSeq X Ten; 18 cram
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
EGAD00001000780 Illumina HiSeq 2000; 18 fastq
EGAD00001001028 DNA belonging to 16 tumour/normal samples were treated with bisulfite, then up to 5 different bisulfite PCRs were performed in each one of the samples. Amplicons form the same sample were pooled and submitted to sequencing on a MiSeq platform. Illumina MiSeq; 18 cram
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
EGAD00001001416 DATA FILES FOR PCGP Dyer_iPSC TEBS Illumina HiSeq 2000; 18 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 18 fastq
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
EGAD00001001664 LGG Epilepsy Cohort WGS Illumina HiSeq 2000; 18 bam
EGAD00001001854 Exome sequencing of nine PCC/PGL tumors, SF and FFPE samples 18 bam
EGAD00001001985 We have identified a number of interesting patients with metastatic malignant melanoma who have demonstrated exceptional durable responses to anti-CTLA4 immunotherapy. We have acquired a wide range of visceral and nodal tumour tissue from these patients through various phases of their treatment; from diagnosis through to response and relapse. Using massive parallel DNA sequencing technologies we aim to identify genomic clues that might confer resistance and response to immnotherapy and further understand their functional consequences. Illumina HiSeq 2000; 18 cram
EGAD00001001957 March 2016 update of Whole genome bisulfite sequencing assay data (fastq) 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; 18 fastq
EGAD00001001987 March 2016 update of Whole genome bisulfite sequencing assay data (bams) 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. 18 bam
EGAD00001002119 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: LAML-KR. 18
EGAD00000000032 NcOEDG Helsinki 1 samples Illumina HumanHap 300 19
EGAD00001000013 CLL Cancer Whole Genome Sequencing Illumina Genome Analyzer II 19 srf
EGAD00010000395 Myeloma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6 19
EGAD00001000677 Genome-wide analysis of H3K27me3 occupancy and DNA methylation in K27M-mutant and H3.3-WT primary pediatric high-grade gliomas (pHGGs) as well as pediatric pHGG cell lines. The study aims to elucidate the connection between K27M-induced H3K27me3 reduction and changes in DNA methylation as well as gene expression. Illumina HiSeq 2000; 19 fastq
EGAD00010000490 Affymetrix Genome-Wide Human SNP Array 6.0 data Affymetrix 6.0- 19
EGAD00001000748 In this study we performed whole genome sequencing of plasma DNA (plasma-Seq) of 19 plasma-DNA samples from a total of 10 patients treated with anti-EGFR therapy. We demonstrated that development of resistance to anti-EGFR therapies is frequently associated with focal amplifications of KRAS, MET, and ERBB2. We also showed that focal KRAS amplifications can be acquired in tumor genomes of patients under cytotoxic chemotherapy. Furthermore, we provide evidence that specific chromosomal polysomies, such as overrepresentations of 12p and 7p, harboring KRAS and EGFR, respectively, determine responsiveness to anti-EGFR therapy. Illumina MiSeq; 19 fastq
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
EGAD00001001860 19 vcf
EGAD00001001214 Deep (>25x mean coverage) whole genome sequencing on 5-10 families drawn from the Scottish Family Health Study with four or more children. Illumina HiSeq 2000; 19 bam
EGAD00001001447 Whole genome sequencing of single cell derived organoids from normal colon tissue and colorectal cancer. HiSeq X Ten; 19 cram
EGAD00000000034 NcOEDG Helsinki 3 samples Illumina HumanHap 300 20
EGAD00001000089 Acute Lymphoblastic Leukemia Exome sequencing Illumina Genome Analyzer II 20 bam
EGAD00001000053 Exome sequencing in patients with Calcific Aortic Valve Stenosis Illumina HiSeq 2000 20 bam
EGAD00001000071 Kaposi sarcoma exome Illumina HiSeq 2000 20 bam
EGAD00001000022 Exome sequencing in patients with cardiac arrhythmias Illumina Genome Analyzer II 20 srf
EGAD00001000389 Cancer is driven by mutations in the genome. We will uncover the mutations that give rise to Ewing's sarcoma, a bone tumour that largely affects children. We will use second generation Illumina massively parallel sequencing, and bespoke software, to characterise the genomes and transcriptomes of Ewing's sarcoma tumours. Illumina HiSeq 2000; 20 bam
EGAD00001000198 Gene Discovery in Age-Related Hearing Loss Illumina Genome Analyzer II;, Illumina HiSeq 2000; 20 bam
EGAD00001000245 Pulldown cytosine deaminases Illumina HiSeq 2000; 20 bam
EGAD00001000638 Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events. Illumina HiSeq 2000; 20 bam
EGAD00010000470 CLL Expression Array GPL570 20
EGAD00001001283 McGill EMC Release 4 in tissue "venous blood" for cell type "T cell" Illumina HiSeq 2500; 20 fastq
EGAD00001000292 Whole genome sequencing analysis was performed on 6 patients within matched germline, follicular lymphoma and transformed follicular lymphoma. Illumina HiSeq 2000; 20 bam
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
EGAD00001000834 Illumina HiSeq 2000; 20 bam
EGAD00001001045 DATA FILES FOR SJRB Illumina HiSeq 2000; 20 bam
EGAD00001000945 NGS of 10 mucosal melanomas: Whole genome sequencing of 5 mucosal melanomas and matched normal DNA Whole exome sequencing of 5 mucosal melanomas and matched normal DNA Illumina HiSeq 2000; 20 bam
EGAD00010000656 Case samples using SNP 6.0 Array 20
EGAD00001001629 Whole-genome somatic rearrangement and point mutation analysis in cell lines with induced telomere fusions. HiSeq X Ten; 20 cram
EGAD00001001974 The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Neonatal Diabetes. 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; 20 cram
EGAD00001001975 The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Neonatal Diabetes Illumina HiSeq 2000; 20 cram
EGAD00001001959 March 2016 update of smRNA-Seq assays data (bam/fastq) 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; 20 fastq
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
EGAD00001002051 BRAF V600E colorectal cancers do not respond to the only currently FDA approved targeted therapy for CRC. There is currently a trial underway in the UK recruiting V600E CRC patients for treatment with a triple therapy combination of Cetuximab, Trametinib and Dabrafenib. We have mutagenized a pool of V600E CRC cell lines and treated with this triple therapy to select out drug resistant clones. We will now sequence these drug resistant clones with the aim of identifying common point mutations engendering resistance to this new therapy. Illumina HiSeq 2500; 20
EGAD00001002002 Pelvic lymph node metastatic samples and matching bloods from prostate cancer patients that had not had androgen deprivation therapy. Collected by Steve Bova. Illumina HiSeq 2000; 20
EGAD00001002232 Mapping genetic evolution of pancreatic cancer precursor lesions such as IPMNs and PanINs. Illumina HiSeq 2000; 20
EGAD00001000058 Exome Sequencing analysis Illumina Genome Analyzer II 21 Illumina_native_qseq
EGAD00001000213 Screening for abnormal CGI methylation in primary colorectal tumours Illumina Genome Analyzer II; 21 bam
EGAD00001000093 Breast Cancer Exome Resequencing Illumina Genome Analyzer II 21 bam
EGAD00001000286 Whole-exome study of congenital macrothrombocytopenia Illumina HiSeq 2000; 21 fastq
EGAD00001000973 Van Hippel-Lindau syndrome multi-region exome sequencing of two patients Illumina HiSeq 2000; 21 bam
EGAD00010000640 WTCCC2 Visceral Leishmaniasis samples from Sudanl using Illumina 670k 21
EGAD00001001976 The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Bardet-Biedl syndrome 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; 21 cram
EGAD00001000306 ICGC prostate cancer whole genome sequencing Illumina HiSeq 2000; 22 bam
EGAD00001000130 Breast Cancer Matched Pair Cell Line Whole Genomes Illumina HiSeq 2000, Illumina HiSeq 2000; 22 bam
EGAD00001000068 Multifocal Breast Project Illumina Genome Analyzer II, Illumina HiSeq 2000; 22 bam,srf
EGAD00001000303 ICGC prostate cancer whole genome mate-pair sequencing Illumina Genome Analyzer IIx; 22 bam
EGAD00001000325 In this study, mutations present in a series of human melanomas (stage IV disease) will be determined, using autologous blood cells to obtain a reference genome. From each of the samples that are analyzed, tumour-infiltrating T lymphocytes have also been isolated. This offers a unique opportunity to determine which (fraction of) mutations in human cancer leads to epitopes that are recognized by T cells. The resulting information is likely to be of value to understand how T cell activating drugs exert their action. Illumina HiSeq 2000; 22 bam
EGAD00001000897 HipSci-RNAseq_REL-2014-05_RNAseq_healthy volunteers Illumina HiSeq 2000; 22 cram
EGAD00001000844 Illumina HiSeq 2000; 22 fastq
EGAD00001002229 Detection of BAP1 mutations in DNA from uveal melanoma and mesothelioma samples. Illumina HiSeq 2000; 22
EGAD00001000887 Exome sequencing of Resistant BCC samples. Illumina HiSeq 2000; 23 fastq
EGAD00001000356 ICGC MMML-seq Data Freeze March 2013 transcriptome sequencing Illumina HiSeq 2000; 23 bam
EGAD00001000084 Matched Ovarian Cancer Sequencing Illumina Genome Analyzer II 23 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
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
EGAD00001000158 Subgroup-specific structural variation across 1,000 medulloblastoma genomes 23 bam
EGAD00001000763 We used targeted deep sequencing to accurately establish the allele frequencies of the mutations identified by exome sequencing Illumina MiSeq; 23 bam
EGAD00001001054 DATA FILES FOR Ph-likeALL WES Illumina HiSeq 2000; 23 bam
EGAD00001001362 This study is to look at the effect of Myc and oxygen conditions on mutational signatures, to help establish causative roles for particular signatures. Illumina HiSeq 2000; 23 cram
EGAD00001001052 DATA FILES FOR SJTALL Illumina HiSeq 2000; 24 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
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
EGAD00010000468 Uveal melanoma matched Tumour and blood samples Illumina HumanOmni2.5 24
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
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
EGAD00010000568 HipSci normal samples using 450K 24
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
EGAD00001000998 Targeted capture of exonic and intronic regions of interest for the study of genomic alterations in multiple myeloma. Illumina HiSeq 2000; 24 cram
EGAD00001001034 Whole genome data (Complete genomics platform) for the study EGAS00001000824 24 other
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
EGAD00001002121 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: BTCA-SG. 24
EGAD00001002118 Raw data (fastq files) from targeted resequencing of AML patients at relapse Illumina MiSeq; 24
EGAD00001002228 Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). Here we obtained genomic DNA from families with multiple individuals with anosmia, suggesting they are congenital. These include those inherited in a manner consistent with dominant and recessive alleles. We have sequenced the exomes of both affected and unaffected family members on the Illumina platform. Illumina HiSeq 2000; 24
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
EGAD00001000087 An exome sequencing pilot study of HIV elite-long term non progressors and rapid progressors Illumina HiSeq 2000 25 bam
EGAD00000000051 Sequencing data from matching Renal Carcinoma samples Illumina Genome Analyzer II 25
EGAD00001000382 Whole Exome Sequencing of Permanent Neonatal Diabetes Patients Illumina HiSeq 2000; 25 bam
EGAD00000000052 Sequencing data from natching Pancreatic Carcinoma samples Illumina Genome Analyzer II 25
EGAD00001000669 High-grade serous ovarian cancer (HGSC) is characterized by poor outcome, often attributed to the emergence of treatment-resistant subclones. We sought to measure the degree of genomic diversity within primary, untreated HGSCs to examine the natural state of tumour evolution prior to therapy. We performed exome sequencing, copy number analysis, targeted amplicon deep sequencing and gene expression profiling on 31 spatially and temporally separated HGSC tumour specimens (six patients), including ovarian masses, distant metastases and fallopian tube lesions. We found widespread intratumoural variation in mutation, copy number and gene expression profiles, with key driver alterations in genes present in only a subset of samples (eg PIK3CA, CTNNB1, NF1). On average, only 51.5% of mutations were present in every sample of a given case (range 10.2 to 91.4%), with TP53 as the only somatic mutation consistently present in all samples. Complex segmental aneuploidies, such as whole-genome doubling, were present in a subset of samples from the same individual, with divergent copy number changes segregating independently of point mutation acquisition. Reconstruction of evolutionary histories showed one patient with mixed HGSC and endometrioid histology, with common aetiologic origin in the fallopian tube and subsequent selection of different driver mutations in the histologically distinct samples. In this patient, we observed mixed cell populations in the early fallopian tube lesion, indicating that diversity arises at early stages of tumourigenesis. Our results revealed that HGSCs exhibit highly individual evolutionary trajectories and diverse genomic tapestries prior to therapy, exposing an essential biological characteristic to inform future design of personalized therapeutic solutions and investigation of drug-resistance mechanisms Illumina Genome Analyzer; 25 bam
EGAD00001000404 Acute myeloid leukaemia (AML) is an aggressive and molecularly diverse disease with a poor overall survival of 20-25%. With an annual incidence of 2.9 per 100,000, AML is currently the commonest myeloid malignancy in Europe, yet the two main therapeutic options for this disease, anthracyclines and purine analogues, have remained unchanged for over 20 years. Currently patients are stratified at diagnosis according to a series of clinicopathological parameters (e.g. age, white cell count and presence/absence of previous clonal haematological disease) and molecular markers (e.g. chromosomal translocations/deletions, aneuploidy and mutations in genes such as FLT3 and NPM1). Patients with adverse prognostic features, whose prognosis is particularly poor (e.g. <15% long-term survival) are offered treatment with allogeneic bone marrow transplantation (allo-BMT) if a sibling or unrelated donor is available. This can significantly improve survival (e.g. up to 40% long-term survival in some contexts), albeit at the expense of significant toxicity and transplant-related mortality (TRM). Allo-BMT is thought to work in part by allowing the delivery of large doses of chemotherapy followed by haemopoietic "rescue" with donor haemopoietic stem cells (haemopoietic failure would otherwise ensue). However, potentially the most potent effect of allo-BMT is the cytotoxic effect of donor lymphocytes against AML blasts, a phenomenon known as graft-vs-leukaemia (GVL) effect. Increasingly, transplants using reduced chemotherapy intensity (mini-allografts) are being used that partially circumvent the toxicity from chemotherapy and rely on GVL to effect cure. Nevertheless, AML relapse after allo-BMT still occurs at a significant rate of up to 80% depending on the type of transplant. There is accumulating evidence that genetic events in residual leukaemic cells enable them to evade immunodetection and therefore survive the GVL effect and expand to cause relapse. The most striking example of this is the loss of HLA antigens after transplants in which donor and recipient are not fully HLA-matched. In these cases, the leukaemia "deletes" the genomic region containing the disparate HLA antigen which was preferentially targeted as "foreign" by the GVL effect. However, the genetic basis of immune evasion in the majority of transplants, which are fully HLA matched, is not known. One possibility is that loss of genes coding for antigens outside the HLA locus but which are also targets of GVL may operate, alternatively genetic events that affect processes downstream of immunological cytotoxicity may be responsible. The identification of genetic events that mediate immune evasion would not only facilitate the understanding of this process but can help plan therapeutic interventions that improve the outcomes of allogeneic transplantation for AML and other disorders. We intend to study this by conducting exome sequencing on 6 cases of AMLs from patients that attend my clinic at Addenbrooke's hospital and have relapsed after allogeneic transplantation. Samples from AML diagnosis, remission/normal and AML relapse (total n=18) will be studied to identify somatic mutations in the primary AML and those acquired by the relapsed clone. The 18 samples will also be studied by array CGH to detect regions of genomic amplification or deletion. Illumina HiSeq 2000; 25 bam
EGAD00001000716 RNAseq data, Publication Fernandez-Cuesta et al., 2014, CD74-NRG1 fusions in lung adenocarcinoma Illumina HiSeq 2000; 25 fastq
EGAD00001000688 In this study we performed ultra deep sequencing of genes associated with anti-EGFR resistance, such as KRAS, BRAF, PIK3CA, and EGFR in 17 plasma-DNA samples from a total of 10 patients treated with anti-EGFR therapy. Illumina MiSeq; 25 bam
EGAD00001000746 Fernandez-Cuesta et al., RNAseq data Pipline Illumina HiSeq 2000; 25 fastq
EGAD00001001356 Neuroblastoma, a clinically heterogeneous pediatric cancer, is characterized by distinct genomic profiles but few recurrent mutations. As neuroblastoma is expected to have high degree of genetic heterogeneity, study of neuroblastoma's clonal evolution with deep coverage whole-genome sequencing of diagnosis and relapse samples will lead to a better understanding of the molecular events associated with relapse. Samples were included in this study if sufficient DNA from constitutional, diagnosis and relapse tumors was available for WGS. Whole genome sequencing was performed on trios (constitutional, diagnose and relapse DNA) from eight patients using Illumina Hi-seq2500 leading to paired-ends (PE) 90x90 for 6 of them and 100x100 for two. Expected coverage for sample NB0175 100x100bp was 30X for tumor and constitutional samples. For the seven other patients expected coverage was 80X for tumor samples with PE 100x100, 100X in the other tumor samples and 50X for all constitutional samples (see table 1). Following alignment with BWA (Li et al., Oxford J, 2009 Jul) allowing up to 4% of mismatches, bam files were cleaned up according to the Genome Analysis Toolkit (GATK) recommendations (Van der Auwera et al., Current Protocols in Bioinformatics, 2013, picard-1.45, GenomeAnalysisTK-2.2-16). Variant calling was performed in parallel using 3 variant callers: GenomeAnalysisTK-2.2-16, Samtools-0.1.18 and MuTect-1.1.4 (McKenna et al., Genome Res, 2010; Li et al., Oxford J, 2009 Aug; Cibulskis et al., Nature, 2013). Annovar-v2012-10-23 with cosmic-v64 and dbsnp-v137 were used for the annotation and RefSeq for the structural annotation. For GATK and Samtools, single nucleotide variants (SNVs) with a quality under 30, a depth of coverage under 6 or with less than 2 reads supporting the variant were filter out. MuTect with parameters following GATK and Samtools thresholds have been used to filter our irrelevant variants. .SNVs within and around exons of coding genes overlapping splice sites.. Then,variants reported in more than 1% of the population in the 1000 genomes (1000gAprl_2012) or Exome Sequencing Project (ESP6500) have been discarded in order to filter polymorphisms. Finally, synonymous variants were filtered out. MuTect focuses on somatic by filtering with constitutional sample. Mpileup comparison between constitutional and somatic DNAs allowed us to focus also on tumor specific SNVs with GATK and Samtools. Finally, every SNV called by our pipeline and also supported in any constitutional samples were filtered our in order to prevent putative constitutional DNA coverage deficiency. Then we analyzed CNVs (copy number variants) with HMMcopy-v0.1.1 (Gavin et al., Genome Res, 2012) and control-FREEC-v6.7 (Boeva et al., Bioinformatics 2011) with a respective window of 2000bp and 1000 bp, and auto-correction of normal contamination of tumor samples for Control-FREEC. Finally we explored Structural variants (SVs) including deletions, inversions, tandem duplications and translocations using DELLY-v0.5.5 with standard parameters (Rausch et al., Oxford J, 2012). In tumors, at least 10 supporting reads were required to make a call and 5 supporting reads for the sample NB0175 with a coverage of only 40X (see table 2). To predict SVs in constitutional samples for subsequent somatic filtering, only 2 supporting reads were required in order not to miss one. To identify somatic events, all the SVs in each normal sample were first flanked by 500 bp in both directions and any SVs called in a tumor sample which was in the combined flanked regions of respective normal sample was removed (see graph 1). Deletions with more than 5 genes impacted or larger than 1Mb and inversions or tandem duplications covering more than 4 genes, were removed. We focused on exonic and splicing events for deletions, inversions, and tandem duplications. For translocation, we keep all SVs that occurred in intronic, exonic, 5'UTR, upstream or splicing regions. Bioinformatics detection of variations with Deep sequencing approach Once PE reads merged and adaptors trimmed by SeqPrep with default parameters, merged reads were aligned via the BWA (Li H. and Durbin R. 2009 PMID 19451168) allowing up to 1 differences in the 22-base-long seeds and reporting only unique alignments. Only reads having a mapping quality 20 or more have been further analysed. Variant calling software was not used, since we aimed to predict variations at low frequencies, observed in less than 1% of reads. Such variants require a custom approach. Using DepthOfCoverage functions of the Genome Analysis Toolkit (GATK) v2.13.2 (McKenna A, et al., 2010 Genome Research PMID: 20644199), we focused on high quality coverage of bases A, C, G and T at the targeted variant position. Depth of coverage of each base following a mapping quality higher than 20 and a base quality higher than 10 have been taken into account in order to focus only on high quality data. Aiming to determine the background level of variability at the studied regions, 10 control samples were included in the analysis. The same approach and filtering criteria have been applied as introduced above over the entire amplicons. In order to highlight variants, for each sample the frequencies of each bases at each amplicon position were then compared to those observed in the set of controls. Statistical analyses were performed with the R statistical software (http://www.R-project.org). Fisher’s exact two-sided tests with a Bonferroni correction were performed to compare percentages of bases between the data sets, i.e. for a given base between a case and the controls. Finally, significant variations were filtered-in once (i) a significant increase in the percentage of avariant base and (ii) a significant decrease in the percentage of it's reference base following our p.values criteria was observed (p.val < 0.05). Illumina HiSeq 2500; 25 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
EGAD00001002136 RNA sequencing data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 25
EGAD00001002209 Globally, human populations show structured genetic diversity as a result of geographical dispersion, selection and drift. Understanding this genetic variation can provide insights into the evolutionary processes that shape both human adaptation and variation in disease. Populations from SSA have the highest levels of genetic diversity. This characteristic, in addition to historical genetic admixture, can lead to complexities in the design of studies assessing the genetic determinants of disease and human variation. However, such studies of African populations are also likely to provide new opportunities to discover novel disease susceptibility loci and variants and refine gene-disease association signals. A systematic assessment of genetic diversity within SSA would facilitate genomic epidemiological studies in the region. The African Genome Variation Project (AGVP) is an international collaboration that aims to produce a comprehensive catalogue of human genetic variation in SSA. This resource has extended our understanding of population history, patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies. The Genome Diversity in Africa Project (GDAP) will extend and expand the African Genome Variation (AGV) project. Using a sequencing-based approach, GDA project aims to produce a comprehensive catalogue of human genetic variation in SSA, including single nucleotide polymorphisms (SNPs), structural variants, and haplotypes. This resource will make a substantial contribution to understanding patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies in SSA populations and studies comprising globally diverse populations, complementing existing genomic resources. Specifically, we plan to carry out low and high depth whole genome sequencing of up to 2000 individuals across Africa (100 individuals from each ethnolinguistic group), and complement these data with 2.5M Illumina genotyping. We have already completed sequencing of 700 individuals across SSA, we are now adding an additional 540 samples from various ethno-linguistic groups within Africa, including populations from Burkina Faso, Morocco, Ghana, Nigeria, Kenya and South Africa. Our scientific objectives are to: 1) develop a resource that provides a comprehensive catalogue of genetic variation in populations from SSA accessible to the global scientific community; 2) characterise population genetic diversity, structure, gene flow and admixture across SSA; 3) develop a cost-efficient, next-generation genotype array for diverse populations across SSA; and 4) facilitate whole genome-sequencing association studies of complex traits and diseases by developing a reference panel for imputation and resource for enhancing fine-mapping disease susceptibility loci. These scientific objectives will be supported by cross-cutting operational activities, including network and management of the consortium, research ethics, and research capacity building in statistical genetics and bioinformatics. HiSeq X Ten; 25
EGAD00001002223 Globally, human populations show structured genetic diversity as a result of geographical dispersion, selection and drift. Understanding this genetic variation can provide insights into the evolutionary processes that shape both human adaptation and variation in disease. Populations from SSA have the highest levels of genetic diversity. This characteristic, in addition to historical genetic admixture, can lead to complexities in the design of studies assessing the genetic determinants of disease and human variation. However, such studies of African populations are also likely to provide new opportunities to discover novel disease susceptibility loci and variants and refine gene-disease association signals. A systematic assessment of genetic diversity within SSA would facilitate genomic epidemiological studies in the region. The African Genome Variation Project (AGVP) is an international collaboration that aims to produce a comprehensive catalogue of human genetic variation in SSA. This resource has extended our understanding of population history, patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies. The Genome Diversity in Africa Project (GDAP) will extend and expand the African Genome Variation (AGV) project. Using a sequencing-based approach, GDA project aims to produce a comprehensive catalogue of human genetic variation in SSA, including single nucleotide polymorphisms (SNPs), structural variants, and haplotypes. This resource will make a substantial contribution to understanding patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies in SSA populations and studies comprising globally diverse populations, complementing existing genomic resources. Specifically, we plan to carry out low coverage (4x) whole genome sequencing of up to 2000 individuals across Africa (100 individuals from each ethnolinguistic group), and complement these data with 2.5M Illumina genotyping. We have already completed sequencing of 700 individuals across SSA, we are now adding an additional 500 samples from up to 5 ethno-linguistic groups within Africa, including populations from Burkina Faso, Cameroon, Morocco, Ghana and Seychelles. Our scientific objectives are to: 1) develop a resource that provides a comprehensive catalogue of genetic variation in populations from SSA accessible to the global scientific community; 2) characterise population genetic diversity, structure, gene flow and admixture across SSA; 3) develop a cost-efficient, next-generation genotype array for diverse populations across SSA; and 4) facilitate whole genome-sequencing association studies of complex traits and diseases by developing a reference panel for imputation and resource for enhancing fine-mapping disease susceptibility loci. These scientific objectives will be supported by cross-cutting operational activities, including network and management of the consortium, research ethics, and research capacity building in statistical genetics and bioinformatics. HiSeq X Ten; 25
EGAD00001002222 Globally, human populations show structured genetic diversity as a result of geographical dispersion, selection and drift. Understanding this genetic variation can provide insights into the evolutionary processes that shape both human adaptation and variation in disease. Populations from SSA have the highest levels of genetic diversity. This characteristic, in addition to historical genetic admixture, can lead to complexities in the design of studies assessing the genetic determinants of disease and human variation. However, such studies of African populations are also likely to provide new opportunities to discover novel disease susceptibility loci and variants and refine gene-disease association signals. A systematic assessment of genetic diversity within SSA would facilitate genomic epidemiological studies in the region. The African Genome Variation Project (AGVP) is an international collaboration that aims to produce a comprehensive catalogue of human genetic variation in SSA. This resource has extended our understanding of population history, patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies. The Genome Diversity in Africa Project (GDAP) will extend and expand the African Genome Variation (AGV) project. Using a sequencing-based approach, GDA project aims to produce a comprehensive catalogue of human genetic variation in SSA, including single nucleotide polymorphisms (SNPs), structural variants, and haplotypes. This resource will make a substantial contribution to understanding patterns of genetic diversity within and among populations in SSA, as well as providing a global resource to help design, implement and interpret genomic studies in SSA populations and studies comprising globally diverse populations, complementing existing genomic resources. Specifically, we plan to carry out low coverage (4x) whole genome sequencing of up to 2000 individuals across Africa (100 individuals from each ethnolinguistic group), and complement these data with 2.5M Illumina genotyping. We have already completed sequencing of 700 individuals across SSA, we are now adding an additional 500 samples from up to 5 ethno-linguistic groups within Africa, including populations from Burkina Faso, Cameroon, Morocco, Ghana and Seychelles. Our scientific objectives are to: 1) develop a resource that provides a comprehensive catalogue of genetic variation in populations from SSA accessible to the global scientific community; 2) characterise population genetic diversity, structure, gene flow and admixture across SSA; 3) develop a cost-efficient, next-generation genotype array for diverse populations across SSA; and 4) facilitate whole genome-sequencing association studies of complex traits and diseases by developing a reference panel for imputation and resource for enhancing fine-mapping disease susceptibility loci. These scientific objectives will be supported by cross-cutting operational activities, including network and management of the consortium, research ethics, and research capacity building in statistical genetics and bioinformatics. HiSeq X Ten; 25
EGAD00001000212 Functional characterisation of CpG islands in human tissues Illumina Genome Analyzer II; 26 bam
EGAD00001000077 CRLF2 sequencing project Exomes Illumina HiSeq 2000 26 bam
EGAD00001000049 Pancreatic adenocarcinoma QCMG 20110901 AB SOLiD System 3.0, AB SOLiD 4 System 26 bam,fastq
EGAD00001000099 Meningioma Exome Illumina Genome Analyzer II 26 bam
EGAD00001000745 Data supporting the paper Transcriptional diversity during lineage commitment of human blood progenitors Illumina HiSeq 2000; 26 bam,phenotype_file,readme_file
EGAD00001001036 Illumina HiSeq 2000; 26 fastq
EGAD00001000989 Validation/deeper sequencing for metastatic prostate cancer samples Illumina HiSeq 2500; 26 cram
EGAD00001001614 26 bam
EGAD00001001119 Whole Genome Bisulfite Sequencing Illumina HiSeq 2000;, Illumina HiSeq 2500; 26 fastq
EGAD00001001121 RNA Sequencing Illumina HiSeq 2000; 26 fastq
EGAD00001002120 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: ORCA-IN. 26
EGAD00001001053 DATA FILES FOR SJOS-WGS-2ndBatch Illumina HiSeq 2000; 27 bam
EGAD00001000152 UK10K_RARE_THYROID REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 27 vcf
EGAD00010000096 DBA case samples using 250K Nsp Affymetrix_250K(Nsp) - gtype 27
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
EGAD00001001400 Fastq data for whole genome shotgun sequencing assay for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2000;, Illumina HiSeq 2500; 27 fastq
EGAD00001001689 Illumina HiSeq 2500; 27 fastq
EGAD00001001927 Illumina HiSeq 2000; 27 fastq
EGAD00001000201 MDACC-endo AB SOLiD System 3.0; 28 bam
EGAD00001000328 ICGC PedBrain: RNA sequencing Illumina HiSeq 2000; 28 fastq
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
EGAD00001000798 In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs but it is unclear whether some cell types carry through fewer mutations through reprogramming (either due to mutations present in the primary cells, or mutations accumulated during reprogramming). Through in depth analysis of hiPSCs generated from different somatic cells, it will be possible to assess the variation in genetic stability of different cell types. Illumina MiSeq;, Illumina HiSeq 2000; 28 bam
EGAD00001000865 WGS of 14 paired samples of Bladder Cancer patient Illumina HiSeq 2000; 28 bam
EGAD00001001210 Altered translation response to stress by medulloblastoma-associated DDX3X mutations 28 bam
EGAD00001001246 DATA FILES FOR PCGP SJMEL WXS Illumina HiSeq 2000; 28 bam
EGAD00001000900 Multi-region Illumina whole-exome and/or whole-genome sequencing on tumor regions collected from early-stage NSCLC patients who underwent definitive surgical resection prior to receiving adjuvant therapy. Detected variants were validated on Ion AmpliSeqâ„¢ Custom Panel and/or Comprehensive Cancer Gene Panels. Patients covered by this dataset: L001, L002, L003, L004, L008 and L011. Ion Torrent PGM;, Illumina Genome Analyzer IIx; 28 bam,fastq
EGAD00001001329 28 bam
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
EGAD00001001401 Fastq data for smRNA-Seq assays assay for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2000; 28 fastq
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 Genome Analyzer II;, Illumina HiSeq 2000; 28
EGAD00001001645 Illumina Genome Analyzer II; 28
EGAD00001002191 Illumina HiSeq 2000; 28
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
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
EGAD00001000164 DATA FILES FOR SJRHB Illumina HiSeq 2000, Illumina HiSeq 2000; 29 bam
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
EGAD00001001288 McGill EMC Release 4 in tissue "skeletal muscle tissue" Illumina HiSeq 2500; 29 fastq
EGAD00001000703 SCLC - Whole genome sequencing data Publication Peifer et al., 2012, Nature Genetics Illumina Genome Analyzer IIx; 29 bam
EGAD00001001299 McGill EMC Release 4 for assay "H3K9me3" Illumina HiSeq 2500; 29 fastq
EGAD00001001379 Illumina HiSeq 2000; 29 bam
EGAD00001000393 Illumina HiSeq 2000; 30 vcf
EGAD00001000346 Exome sequencing of patients and their families with diverse rare neurological disorders. Some families have prior linkage data identifying a specific chromosomal interval or interest, other families do not have linkage data available. Many of these families come from special populations whose demography or preference for consanguineous marriages make them particularly tractable for genetic studies. Illumina HiSeq 2000; 30 bam
EGAD00001000042 Whole-Exome-Seq-Dataset Illumina Genome Analyzer IIx 30 bam
EGAD00001000427 Illumina HiSeq 2000; 30 bam
EGAD00001000726 In total 30 Acute Myeloid Leukemias with an acquired inv(3)(q21q26) or t(3;3)(q21;q26) have been characterized by whole transcriptome sequencing (RNA-Seq). The 3q-aberration leads to overexpression of the proto-oncogene EVI1, but the mechanism of overexpression has thus far been elusive. The RNA-Seq was integral in determining the precise enhancer inducing the overexpression and led to other key discoveries. Illumina HiSeq 2500; 30 fastq
EGAD00001000813 Fernandez-Cuesta et al., 2014, Nature Communication, Whole genome sequencing was performed using a read length of 2x100 bp for all samples. On average, 110 Gb of sequence were produced per sample, aiming a mean coverage of 30x for both tumour and matched normal. Illumina HiSeq 2000; 30 bam
EGAD00001000831 Illumina HiSeq 2000; 30 bam
EGAD00001001013 RNAseq and exome sequencing data of gastric cancer cell lines. Illumina HiSeq 2000; 30 fastq
EGAD00010000622 SNP array data for gastric cancer cell lines 30
EGAD00001001312 Fastq data for whole genome bisulfite sequencing assays for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2000;, Illumina HiSeq 2500; 30 fastq
EGAD00001001435 Aligned whole genome bisulfite sequencing data for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. 30 bam
EGAD00001001240 VCF files of somatic variants from tumor-normal pairs of Asian lung cancer patients 30 vcf
EGAD00001001879 A pilot to establish the feasability of using a custom Agilent targeted pulldown of 110 genes implicated in colorectal tumourigensis to sequence for driver mutations in a set of 30 FFPE colorectal adenomas. If successful, we propose to sequence an additional 350 adenomas as part of a MRC research study in order to define the pattern of driver mutations across the spectrum of pathological subtypes including coventional adenomas, serrated adenomas and hyperplastic polyps Illumina HiSeq 2000; 30 cram
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
EGAD00001001388 Whole-genome bisulfite sequencing (WGBS) on 30 breast cancer cases from the BASIS project. Illumina HiSeq 2000; 30
EGAD00001002108 Exome and targeted amplicon sequencing data for tumor, germline and plasma samples from a patient with metastatic breast cancer. Illumina MiSeq; 30
EGAD00001000648 ICGC MMML-seq Data Freeze July 2013 transcriptome sequencing 31 bam
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
EGAD00001001017 DNA extracted from multiple biopsies taken from different areas of primary lung tumours will be subjected to targeted re-sequencing and analysed in order to assess intra-tumour heterogeneity with respect to mutations in a selection of cancer related genes. Illumina HiSeq 2000; 31 bam,cram
EGAD00001001047 Targeted exome sequencing of 375 genes Illumina HiSeq 2500; 31 fastq
EGAD00001001621 release_2: ICGC PedBrain: ChIP-Seq Illumina HiSeq 2000; 31 fastq
EGAD00001000075 Gastric and Esophageal tumour rearrangement screen Illumina HiSeq 2000 32 bam
EGAD00001000115 Mutational landscapes of primary triple negative breast cancers - WGS ABI_SOLID 32 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
EGAD00001001294 McGill EMC Release 4 for assay "H3K27me3" Illumina HiSeq 2500; 32 fastq
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
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
EGAD00001001402 Fastq data for stranded mRNA-Seq assays assay for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium. Illumina HiSeq 2000;, Illumina HiSeq 2500; 32 fastq
EGAD00001002010 high-throughput sequencing of methylated and hydroxymethylated DNA from tumor and non-tumor tissue of patients with high-risk prostate cancer Illumina HiSeq 2000; 32
EGAD00001002185 Exome sequencing of 32 patient samples from Sri Lanka with the condition haemoglobin E beta thalassaemia Illumina HiSeq 2000; 32
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
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
EGAD00001000045 Somatic mutation of SF3B1 in myelodysplasia with ring sideroblasts and other cancers Illumina Genome Analyzer II, Illumina HiSeq 2000; 33 bam,cram,srf
EGAD00001000161 DATA FILES FOR SJLGG Illumina HiSeq 2000 33 bam
EGAD00001000150 Targeted re-sequencing of 97 genes in T-ALL 454 GS FLX Titanium 33 sff
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
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
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
EGAD00001000268 DATA FILES FOR SJCBF Illumina HiSeq 2000; 34 bam
EGAD00001000817 Alternative splicing plays critical roles in differentiation, development, and cancer (Pettigrew et al., 2008; Chen and Manley, 2009). The recent identification of specific spliceosome inhibitors has generated interest in the therapeutic potential of targeting this cellular process (van Alphen et al., 2009). Using an integrated genomic approach, we have identified PRPF6, an RNA binding component of the pre-mRNA spliceosome, as an essential driver of oncogenesis in colon cancer. Importantly, PRPF6 is both amplified and overexpressed in colon cancer, and only colon cancer cells with high PRPF6 levels are sensitive to its loss. Our data clearly point to an important role for PRPF6 in colon cancer growth and suggest that a better understanding of its role in alternative splicing in colon cancer is warranted. To determine the specific alternative splice forms that PRPF6 regulates in colon cancer, we plan three experiments: 1. The first involves knocking down expression of PRPF6 in two different cancer cell lines with 3 different siRNAs, and then completing RNA-seq to determine the gene expression changes that occur relative to a non-targeting control siRNA. Because of the role for PRPF6 in pre-mRNA splicing, we especially want to quantify the changes in splice-specific forms of all genes genome-wide to identify genes whose splicing is altered upon PRPF6 knockdown. 2. The second involves immunoprecipitating PRPF6 from two different cancer cell lines and isolating any RNA that is bound to PRPF6, since PRPF6 is an RNA-binding protein. We then want to carry out RNA-seq to identify which RNA molecules co-immunoprecipitated with PRPF6. This will help us determine possible functions for PRPF6 in regulating colon cancer growth. 3. The third involves overexpressing PRPF6 in cell lines and then carrying out RNA-seq to identify any changes in splice-specific gene expression. This will allow us to determine whether increased PRPF6 expression is sufficient to drive alternative splicing changes. Illumina HiSeq 2000; 34 fastq
EGAD00001001666 LGG Epilepsy Cohort RNA-Seq Illumina HiSeq 2000; 34 bam
EGAD00001001688 Illumina HiSeq 2500; 34 fastq
EGAD00001000384 In order to progress human induced pluripotent stem cells (hiPSCs) towards the clinic, several outstanding questions must be addressed. It is possible to reprogram different somatic cell types into hiPSCs but it is unlcear whether some cell types carry through fewer mutations through reprogramming (either due to mutations present in the primary cells, or mutations accumulated during reprogramming). Through in depth analysis of hiPSCs generated from different somatic cells, it will be possible to assess the variation in genetic stability of different cell types. Illumina HiSeq 2000; 35 bam
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
EGAD00010000502 Case samples using SNP Array 6.0 Affymetrix_U133plus2- 35
EGAD00010000504 Control samples using SNP Array 6.0 Affymetrix_U133plus2- 35
EGAD00010000500 Case samples using U133 Plus 2.0 Array Affymetrix_U133plus2- 35
EGAD00010000716 BLUEPRINT DNA Methylation of different B-cell subpopulations 35
EGAD00010000452 Chondrosarcoma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6 36
EGAD00010000052 Monozygotic twins that are discordant for schizophrenia (Genotyping) CompleteGenomics build 1.4.2.8 - CG Build 1.4.2.8 36
EGAD00001001298 McGill EMC Release 4 for assay "H3K27ac" Illumina HiSeq 2500; 36 fastq
EGAD00001002050 In this project we will use exome sequencing to identify somatic mutations in lesions from a patient with a germline mutation in the protection of telomeres 1 gene (POT1). Illumina HiSeq 2000; 36
EGAD00001002138 WGS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 36
EGAD00001000159 DATA FILES FOR SJOS Illumina HiSeq 2000 37 bam
EGAD00001001295 McGill EMC Release 4 for assay "H3K36me3" Illumina HiSeq 2500; 37 fastq
EGAD00001000853 DATA FILES FOR SJEPD Illumina HiSeq 2000; 37 bam
EGAD00010000626 A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille. 5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. Among the 5 mutation carriers, 4 were genotyped for 97 European Ancestry Informative SNPs (EAIMs). 37
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
EGAD00001002133 Dataset contains Whole Exome Sequencing(WES) data from 37 individuals as aligned bam-files. The reads have been aligned using bowtie2 to human genome hg19 build. Illumina HiSeq 2000; 37
EGAD00001000153 UK10K_RARE_SIR REL-2012-01-13 Illumina Genome Analyzer II;, Illumina HiSeq 2000; 38 vcf
EGAD00001000606 Background Massively parallel sequencing technology has transformed cancer genomics. It is now feasible, in a clinically relevant time-frame, for a clinically manageable cost, to screen DNA from patient tumours for mutations essentially genome-wide. The challenge