What are Datasets?

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

Total number of Datasets: 2094
Displaying 1 - 2094

Dataset Accessionsort ascending Description Technology Samples File Types
EGAD00010000951 SNP array data for 668 cancer cell lines Illumina 2.5M 668
EGAD00010000950 WTCCC2 Bacteraemia Susceptibility (BS) smaples using Affymetrix 6.0 Affymetrix 6.0 4,924
EGAD00010000946 Human samples, 450k analysis Illumina 450k 127
EGAD00010000944 Genotyping data from Southeast Borneo individuals Illumina Human Omni Express Bead Chip-24 v1.0 41
EGAD00010000943 Sahel population study using 2.5M Illumina HumanOmni2.5 161
EGAD00010000942 Breast lesions assayed with Affymetrix SNP 6.0 Affymetrix SNP 6.0 125
EGAD00010000941 Gambian specimens without trachomatous scarring Illumina Omni 2.5 1,531
EGAD00010000940 Gambian specimens with trachomatous scarring WHO grade C2/C3 Illiumina Omni 2.5 1,531
EGAD00010000929 WTCCC3_Primary Biliary Cirrhosis Replication Illumina ImmunoChip 2,981
EGAD00010000928 WTCCC3_Primary Biliary Cirrhosis Replication Post-QC Illumina ImmunoChip 2,861
EGAD00010000921 samples using Affymetrix CYTOSCANHD CYTOSCANHD 12
EGAD00010000920 samples using Illumina HUMANOMNIEXPRESS HUMANOMNIEXPRESS 50
EGAD00010000919 samples using Illumina HUMANOMNI1QUAD HUMANOMNI1QUAD 2
EGAD00010000917 399 tumors profiled using Agilent miRNA microarrays (Product Number G4872A, design ID 046064). The arrays are based on miRBase release 19.0 and 2006 human miRNAs are represented. 150 ng total RNA was used as input. Agilent miRNA microarrays 399
EGAD00010000916 BASIS breast cancer DNA methylation Illumina 450k Illumina 450k 457
EGAD00010000915 Affymetrix SNP6.0 breast cancer genome sequencing data Affymetrix SNP6.0 344
EGAD00010000913 SEA 660K Illumina 660K 3
EGAD00010000912 SEA 610K Illumina 610K 1
EGAD00010000911 HipSci normal ES lines REL-2016-04 Illumina 2
EGAD00010000910 HipSci normal ES lines REL-2016-04 Illumina 2
EGAD00010000909 HipSci normal ES lines REL-2016-04 Illumina 2
EGAD00010000908 Illumina SNP-arrays for matching retinoblastoma-blood pairs and retinoblastoma cell lines. HumanOmni1 Quad BeadChip 132
EGAD00010000904 Genome-wide study of resistance to severe malaria in eleven worldwide populations:Kenya Illumina Omni 2.5M 3,865
EGAD00010000902 Genome-wide study of resistance to severe malaria in eleven worldwide populations:Gambia Illumina Omni 2.5M 5,594
EGAD00010000901 Russian Tuberculosis samples using Affymetrix 6.0 Affymetrix Genome-Wide Human SNP Array 6.0 Genotypes 11,937
EGAD00010000897 Infinium 450K in Rhabdomyosarcoma Infinium HumanMethylation450 BeadChip 53
EGAD00010000892 Healthy individuals from Italy Illumina 300
EGAD00010000889 Gencode control samples using SNP6.0 SNP6.0 183
EGAD00010000887 Freeze 1 of the RP3 project Illumina Human Methylation 450k BeadChip 3,898
EGAD00010000886 samples using Affymetrix HG_U133_+2 Affymetrix HG_U133_+2 99
EGAD00010000881 Digital images of ovarian cancer sections Aperio 91
EGAD00010000875 CLL Expression Array Affymetrix U219 1,008
EGAD00010000872 Genotyped case and control sampes using HumanExome Beadchip 1,610
EGAD00010000871 CLL and normal B cell samples using 450K 226
EGAD00010000870 DNA methylation microarray Illumina_Infinium_HumanMethylation450 48
EGAD00010000869 RNA expression microarray Illumina_HumanHT-12v4 62
EGAD00010000858 Achalasia cases & controls 8,151
EGAD00010000854 WTCCC3 UK maternal cases of pre-eclampsia Illumina Human670-QuadCustom_v1 1,990
EGAD00010000853 VeraCode GoldenGate GT Assay technology 147
EGAD00010000847 Genotyping using Affymetrix SNP6.0 49
EGAD00010000831 BLUEPRINT EpiMatch: harnessing epigenetics for hematopoietic stem cell transplantation Illumina Infinium HumanMethylation450 BeadChips 85
EGAD00010000829 Illumina Infinium 450K array data 70
EGAD00010000827 Illumina Infinium 450K array data 1
EGAD00010000823 Results of SNP arrays on synchronous CRC samples 1
EGAD00010000819 Summary statistics from meta-analysis for BP phenotypes 0
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
EGAD00010000807 Illumina HumanCoreExome genotyping data from the British Society for Surgery of the Hand Genetics of Dupuytren's Disease consortium (BSSH-GODD consortium) collection 4,201
EGAD00010000791 Illumina HumanOmni2.5-8 BeadChip 1
EGAD00010000790 ATRT expression Illumina Human HT6-v3 Array 41
EGAD00010000789 ATRT expression Illumina Human HT6-v3 Array 4
EGAD00010000787 Epigen-Brasil samples using HumanOmni2.5 6,487
EGAD00010000775 HipSci normal samples REL-2014-11 Illumina 580
EGAD00010000773 HipSci normal samples REL-2014-11 Illumina 580
EGAD00010000771 HipSci normal samples REL-2015-04 135
EGAD00010000768 Replication data for HipSci normal samples using both HumanCoreExome-12_v1 and HumanOmni2.5-8 BeadChips 0
EGAD00010000766 We have established a mechanism for the collection of postal DNA samples from consenting National Joint Registry for England and Wales (NJR) patients and have carried out genotyping genome-wide in 903 patients with the condition Developmental Dysplasia of the Hip (DDH) on the Illumina CoreExome array 903
EGAD00010000764 Ovarian tumor samples using Illumina 0
EGAD00010000758 French glioma case germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 906
EGAD00010000756 French glioma control germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 699
EGAD00010000754 UK glioma case germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 596
EGAD00010000752 German glioma case germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 899
EGAD00010000750 German glioma control germline genotypes using Illumina HumanExome-12v1_A array Illumina HumanExome-12v1_A 2,391
EGAD00010000748 Genotyping using Illumina Human OmniExpress12v1.0 1
EGAD00010000744 Subset 2 of osteoarthritis cases genotyped on Illumina 610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with consent for osteoarthritis studies only. 2,326
EGAD00010000742 Subset 1 of osteoarthritis cases genotyped on Illumina610k from the arcOGEN Consortium (http://www.arcogen.org.uk/) with broader consent. 5,383
EGAD00010000740 Osteoarthritis cases genotyped on Illumina HumanOmniExpress from the arcOGEN Consortium (http://www.arcogen.org.uk/) with broader consent. 674
EGAD00010000738 Generation Scotland APOE data 18,336
EGAD00010000736 AAD case and control samples from UK and Norway 117
EGAD00010000730 WTCCC2 Psychosis Endophenotype samples from UK, Germany, Holland, Spain and Australia using the Affymetrix 6.0 array 1
EGAD00010000724 Pilot experiment on functional genomics in osteoarthritis (methyl) 0
EGAD00010000722 Pilot experiment on functional genomics in osteoarthritis (coreex) 1
EGAD00010000718 BLUEPRINT Gene expression of different B-cell subpopulations 42
EGAD00010000716 BLUEPRINT DNA Methylation of different B-cell subpopulations 35
EGAD00010000714 aplastic anemia samples tumor using 250K Affymetrix 250K Nsp-GTYPE 440
EGAD00010000712 ATRT genotyping 0
EGAD00010000710 ATRT genotyping blood 0
EGAD00010000708 Human samples typed on Illumina Omni 5M 124
EGAD00010000706 SNP array data for 668 cancer cell lines 0
EGAD00010000704 610k genotyping imputed on Hapmap 3 and 1000G Phase 1 CEU 714
EGAD00010000702 SNP-chip genotyping data for one proband in the DDD study (Ref : Carvalho AJHG 2015) 0
EGAD00010000698 PCGP INF ALL SNP6 0
EGAD00010000696 PCGP ETP ALL SNP6 0
EGAD00010000694 HCC array for cnv 55
EGAD00010000692 Genome-wide DNA methylation epigenotyping of African rainforest hunter-gatherers and neighbouring agriculturalists by Illumina HumanMethylation450 372
EGAD00010000690 Genome-wide SNP genotyping of African rainforest hunter-gatherers and neighbouring agriculturalists by Illumina HumanOmniExpress 160
EGAD00010000688 glioma normal samples using 250K 119
EGAD00010000686 glioma samples tumor using cytoscan 5
EGAD00010000684 glioma normal samples using cytoscan 3
EGAD00010000682 glioma samples tumor using 250K 762
EGAD00010000680 Tumor sample CGH arrays Agilent CGH array 4
EGAD00010000678 Tumor sample SNP arrays Illumina SNP array 11
EGAD00010000676 ELSA genome-wide genotypes, including estimated related individuals. There are 3 files: .fam, .bim, .bed 7,452
EGAD00010000674 ELSA genome-wide genotypes, excluding estimated related individuals. There are 3 files: .fam, .bim, .bed 7,412
EGAD00010000666 Purified plasma cells from tonsil of Healthy donor 8
EGAD00010000664 Finnish population cohort genotyping_B 340
EGAD00010000662 Finnish population cohort genotyping 7,803
EGAD00010000658 DLBCL 148 SNP 6.0 Cohort 148
EGAD00010000656 Case samples using SNP 6.0 Array 20
EGAD00010000654 Control samples using SNP 6.0 Arrays 10
EGAD00010000652 Genotyped samples using Illumina HumanOmni2.5 402
EGAD00010000650 Genotypes from Omni2.5 chip 1,213
EGAD00010000648 nccRCC tumor/normal genotypes 81
EGAD00010000646 DNA methylation analysis of 35 prostate tumor and 6 normal prostate samples 41
EGAD00010000644 Affymetrix SNP6.0 cancer cell line exome sequencing data 1,022
EGAD00010000642 CLL Expression Array 144
EGAD00010000640 WTCCC2 Visceral Leishmaniasis samples from Sudanl using Illumina 670k 21
EGAD00010000638 WTCCC2 Visceral Leishmaniasis samples from Indial using Illumina 670k 97
EGAD00010000636 WTCCC2 Visceral Leishmaniasis samples from Brazil using Illumina 670k 119
EGAD00010000634 WTCCC2 People of the British Isles (POBI) samples using Affymetrix 6.0 array 2,930
EGAD00010000632 WTCCC2 People of the British Isles (POBI) samples using Illumina 1.2M array 2,912
EGAD00010000630 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 436
EGAD00010000628 The TEENAGE study target population comprised adolescent students aged 13–15 years attending the first three classes of public secondary schools located in the wider Athens area of Attica. 748
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
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
EGAD00010000622 SNP array data for gastric cancer cell lines 30
EGAD00010000620 Controls 3,683
EGAD00010000618 Ischemic stroke cases 3,682
EGAD00010000616 HumanOmni1-Quad genotyping array 230
EGAD00010000614 40 Druze Trios 120
EGAD00010000612 Celiac disease North Indian samples using Immunochip 1,227
EGAD00010000610 Samples from the Greek island of Crete, MANOLIS cohort 221
EGAD00010000608 SNP6 data for seminoma samples 8
EGAD00010000606 SNP6 data for matched normal samples 8
EGAD00010000604 DNA methylation data using Illumina 450K 2,195
EGAD00010000602 WTCCC2 Reading and Mathematics ability (RM) samples from UK using the Affymetrix 6.0 array 3,665
EGAD00010000600 Prostate Adenocarcinomas samples using 450K Illumina450K 80
EGAD00010000598 PCGP Ph-likeALL SNP6 1,724
EGAD00010000596 PCGP Ph-likeALL GEA 837
EGAD00010000594 SCOOP severe early-onset obesity cases 1,720
EGAD00010000584 WTCCC2 Glaucoma samples using Illumina 670k array 2,765
EGAD00010000580 Gencode control samples using 550K 217
EGAD00010000578 Gencode case samples using 550K 249
EGAD00010000574 Pleuropulmonary blastoma samples using 250K 14
EGAD00010000572 Imputation-based meta-analysis of severe malaria in Gambia. 2,870
EGAD00010000570 Imputation-based meta-analysis of severe malaria in Kenya. 3,343
EGAD00010000568 HipSci normal samples using 450K 24
EGAD00010000566 HipSci normal samples using 500K 120
EGAD00010000564 HipSci normal samples using 47K 120
EGAD00010000562 Medulloblastoma DNA methylation Illumina_HumanMethylation450 115
EGAD00010000560 SNP array of 7 HCCs and matched background liver in children with bile salt export pump deficiency Illumina HumanOmniExpress-12 v1. 14
EGAD00010000558 SNP 6.0 arrays of small cell lung cancer Affymetrix SNP 6.0 54
EGAD00010000556 SNP 6.0 arrays of small cell lung cancer 1,032
EGAD00010000554 SNP 6.0 arrays of small cell lung cancer 1,032
EGAD00010000552 Neuroblastoma samples 130
EGAD00010000546 SNP 6.0 arrays of carcinoid samples Affymetrics_SNP_6.0- 74
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
EGAD00010000538 28 unlinked autosomal microsatellite loci for 20 African and 4 philippine populations Applied Biosystems 3100 automated sequencer-GeneMarker v.1.6 (Softgenetics) 1,702
EGAD00010000536 21 unlinked autosomal microsatellite loci for 30 Central Asian populations Applied Biosystems 3100 automated sequencer-GeneMarker v.1.6 (Softgenetics) 1,702
EGAD00010000534 Illumina HumanMethylation450 BeadChip 0
EGAD00010000532 Illumina Human Omni1-Quad SNP genotyping array 0
EGAD00010000528 Illumina HumanHT-12 v4 array 0
EGAD00010000526 SNP 6.0 arrays of small cell lung cancer Affymetrics_SNP_6.0- 63
EGAD00010000522 Samples from the Greek island of Crete, MANOLIS cohort HumanOmniExpress-12 v1.1 BeadChip-GenCall 1,364
EGAD00010000520 Healthy volunteer collection of European Ancestry Illumina OmniExpress v1.0-Illumina GenomeStudio 144
EGAD00010000518 Samples from the Greek island of Crete, MANOLIS cohort HumanExome_12v1.1_A -GenCall, zCall 1,280
EGAD00010000516 Samples from the Pomak Villages in Greece, Pomak isolate HumanExome_12v1.1_A -GenCall, zCall 1,046
EGAD00010000514 Case samples using SNP 6.0 Array GenomeWideSNP_6-BirdseedV2 12
EGAD00010000512 Case samples using HumanOmni1-Quad GenomeWideSNP_6-BirdseedV2 12
EGAD00010000510 Matched control samples using HumanOmni1-Quad GenomeWideSNP_6-BirdseedV2 12
EGAD00010000508 Matched control samples using SNP 6.0 Array GenomeWideSNP_6-BirdseedV2 12
EGAD00010000506 WTCCC2 BO (Barretts oesophagus) samples Illumina_670k-Illuminus 1,991
EGAD00010000504 Control samples using SNP Array 6.0 Affymetrix_U133plus2- 35
EGAD00010000502 Case samples using SNP Array 6.0 Affymetrix_U133plus2- 35
EGAD00010000500 Case samples using U133 Plus 2.0 Array Affymetrix_U133plus2- 35
EGAD00010000498 Affymetrix SNP6.0 genotype data for prostate cancer patients Affymetrix_SNP6- 18
EGAD00010000496 Genome-wide SNP genotyping of African rainforest hunter-gatherers and neighbouring agriculturalists Illumina HumanOmni1-Quad-Illumina GenomeStudio 260
EGAD00010000494 Controls_Human660W-Quad_v1_A Illumina_Human660W-Quad_v1_A-Not supplied 4
EGAD00010000492 Cases_Human660W-Quad_v1_A Illumina_Human660W-Quad_v1_A-Not supplied 4
EGAD00010000490 Affymetrix Genome-Wide Human SNP Array 6.0 data Affymetrix 6.0- 19
EGAD00010000488 Chondroblastoma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6- 7
EGAD00010000486 ccRCC case samples using expression array Agilent Human Whole Genome 4x44k v2 - Feature Extraction 101
EGAD00010000484 ccRCC control samples using 250K Nsp Affymetrix_250K(Nsp) - gtype 234
EGAD00010000482 ccRCC case samples using methylation array Illumina Infinium HumanMethylation 450K - GenomeStudio 1
EGAD00010000480 ccRCC case samples using 250K Nsp Affymetrix_250K(Nsp) - gtype 240
EGAD00010000478 blood-based gene expression from breast cancer cases and age-matched controls in case-control serie 3 (CC3) Illumina 118
EGAD00010000476 blood-based gene expression from breast cancer cases and age-matched controls in case-control serie 1 (CC1) Illumina 110
EGAD00010000474 blood-based gene expression from breast cancer cases and age-matched controls in case-control serie 2 (CC2) Illumina 98
EGAD00010000472 CLL Expression Array Affymetrix U219 219
EGAD00010000470 CLL Expression Array GPL570 20
EGAD00010000468 Uveal melanoma matched Tumour and blood samples Illumina HumanOmni2.5 24
EGAD00010000466 Down syndrome CNV genotyping data NimbleGen 135K aCGH - NimbleScan 108
EGAD00010000464 Down syndrome SNP genotyping data Illumina 550K - Illumina Genome Studio 338
EGAD00010000462 SJLGG Case samples using Gene Expression Array Affymetrix_U133v2 75
EGAD00010000460 GENCORD2 DNA methylation 294
EGAD00010000458 Controls using 450K DNA methylation 151
EGAD00010000456 Leukemia samples using 450K DNA methylation 800
EGAD00010000452 Chondrosarcoma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6 36
EGAD00010000450 Genome Wide Genotype Data Illumina Human Custom 1,2M and Human 610 Quad Custom arrays 758
EGAD00010000448 Macrophage Gene Expression Illumina Human-Ref-8 v3 beadchip 758
EGAD00010000446 Monocyte Gene Expression Illumina Human-Ref-8 v3 beadchip 758
EGAD00010000444 Agilent ncRNA 60k txt files Agilent ncRNA 60k 1,480
EGAD00010000442 Affymetrix SNP 6.0 CEL files Affymetrix_SNP6_raw 1,302
EGAD00010000438 Normalized miRNA expression data Agilent ncRNA 60k 1,480
EGAD00010000436 Illumina HT 12 IDAT files Illumina HT 12 1,302
EGAD00010000434 Normalised mRNA expression Illumina HT 12 1,302
EGAD00010000429 DNA methylation analysis of 4 primary lymphoma samples HumanMethylation450k Bead Chip - Genome Studio 4
EGAD00010000427 DNA methylation analysis of 4 peripheral blood samples HumanMethylation450k Bead Chip - Genome Studio 4
EGAD00010000425 Han Chinese samples using Immunochip HanChinese_Immunochip 192
EGAD00010000423 Han Chinese samples using Illumina OMNIExpress (controls) Illumina OMNIExpress 213
EGAD00010000421 Han Chinese samples using Affymetrix (controls) Affymetrix_6.0 187
EGAD00010000419 Han Chinese samples using Affymetrix (cases) Affymetrix_6.0 62
EGAD00010000417 Han Chinese samples using Illumina OMNIExpress (cases) Illumina OMNIExpress 62
EGAD00010000395 Myeloma case sample genotype using Affymetrix SNP6.0 Affymetrix_SNP6 19
EGAD00010000391 Cambridge control samples using a 660K genotyping chip from Illumina Illumina Human 660K Quad BeadChips - Illuminus 232
EGAD00010000389 Cambridge control samples using a 24k expression array from Illumina Illumina Human-Ref 8 v3.0 expression array 395
EGAD00010000387 Cambridge control samples using a 1.2M genotyping chip from Illumina Illumina Human 1.2M Duo custom BeadChips v1 - Genome Studio 188
EGAD00010000385 MRCA sample using 300K Illumina 300K - GenomeStudio 394
EGAD00010000383 MRCA sample using 100K Illumina 100K - GenomeStudio 394
EGAD00010000381 MRCE sample using 300K Illumina 300K - GenomeStudio 543
EGAD00010000379 DNA methylation analysis of 2 peripheral blood samples HumanMethylation450k Bead Chip - Genome Studio 2
EGAD00010000377 DNA methylation analysis of 6 primary lymphoma samples HumanMethylation450k Bead Chip - Genome Studio 6
EGAD00010000371 Case and control samples (Genotypes) Infinium_370k - GenomeStudio 170
EGAD00010000300 Summary statistics from Haemgen RBC GWAS Illumina, Affymetrix, Perlegen 1
EGAD00010000298 All cases and controls (Hap300) 13,761
EGAD00010000296 1958BC control samples only (Hap550) 2,224
EGAD00010000294 1958BC control samples only (Hap300) 2,436
EGAD00010000292 All cases and Finnish, Dutch, Italian control samples (Hap300) 10,339
EGAD00010000290 NBS control samples only (Hap550) 2,276
EGAD00010000288 All cases and Finnish, Dutch, Italian control samples (Hap550) 6,313
EGAD00010000286 All cases and controls (Hap550) Illumina (various) 11,950
EGAD00010000284 NBS control samples only (Hap300) Illumina (Various) 2,500
EGAD00010000282 Pharmacogenomic response to Statins samples (Genotypes/Phenotypes) Affymetrix 6.0 - CHIAMO 4,134
EGAD00010000280 CLL Expression array Affymetrix snp 6.0 4
EGAD00010000278 SCLC matched normal genotypes Illumina_2.5M 51
EGAD00010000276 SCLC tumor genotypes Illumina_2.5M 56
EGAD00010000274 Colon matched tumour samples Illumina_2.5M 74
EGAD00010000272 Colon tumour samples Illumina_2.5M 75
EGAD00010000270 Metabric breast cancer samples (Images) Aperio image - H&E stained tissue_section 564
EGAD00010000268 Metabric breast cancer samples (Expression raw data) Illumina HT 12 543
EGAD00010000266 Metabric breast cancer samples (Genotype raw data) Affymetrix SNP 6.0 543
EGAD00010000264 WTCCC2 project samples from Ischaemic Stroke Cohort Illumina_670k - Illuminus 4,205
EGAD00010000262 WTCCC2 project Schizophrenia (SP) samples Affyemtrix 6.0 - CHIAMO 3,019
EGAD00010000260 PNET genotyping Illumina OmniQuad 2.5 - CNVpartition 77
EGAD00010000254 CLL Methylation Arrays Illumina HumanMethylation450 165
EGAD00010000252 CLL Expression Arrays Affymetrix U219 137
EGAD00010000250 NBS control samples Illumina ImmunoBeadChip - Illuminus, GenoSNP 3,030
EGAD00010000248 1958BC control samples Illumina ImmunoBeadChip - Illuminus, GenoSNP 6,812
EGAD00010000246 Coeliac disease cases and control samples. (1958BC samples excluded) Illumina ImmunoBeadChip - Illuminus, GenoSNP 10,758
EGAD00010000238 CLL Expression array Affymetrix GeneChip Human Genome U133 plus 2.0 64
EGAD00010000236 WTCCC2 samples from Coronary Artery Disease Cohort - Illuminus, GenoSNP 3,125
EGAD00010000234 WTCCC2 samples from 1958 British Birth Cohort Illumina HumanExome-12v1_A-GenCall, zCall 12,241
EGAD00010000232 WTCCC2 samples from Type 2 Diabetes Cohort - Illuminus 2,975
EGAD00010000230 WTCCC2 samples from Hypertension Cohort - Illuminus 2,943
EGAD00010000220 Ovarian & matched normal (Genotypes) Complete Genomics - CG Build 1.4.2.8 2
EGAD00010000217 Segmented (HMM) copy number aberrations (CNA); discovery set Affymetrix SNP 6.0 997
EGAD00010000216 Segmented (CBS) copy number variants (CNV); validation set Affymetrix SNP 6.0 995
EGAD00010000215 Segmented (CBS) copy number aberrations (CNA); validation set Affymetrix SNP 6.0 995
EGAD00010000214 Segmented (CBS) copy number variants (CNV); discovery set Affymetrix SNP 6.0 997
EGAD00010000213 Segmented (CBS) copy number aberrations (CNA); discovery set Affymetrix SNP 6.0 997
EGAD00010000212 Normalized expression data; normals Illumina HT 12 144
EGAD00010000211 Normalized expression data; validation set Illumina HT 12 995
EGAD00010000210 Normalized expression data; discovery set Illumina HT 12 997
EGAD00010000202 Case samples (Illumina_660K & Illumina_670K) Illumina_660K/Illumina_670K 1,478
EGAD00010000164 Affymetrix 6.0 CEL files Affymetrix SNP 6.0 1,992
EGAD00010000162 Illumina HT 12 IDATS Illumina HT 12 2,136
EGAD00010000160 Illumina HT 12 IDATS Illumina HT 12 1,001
EGAD00010000158 Affymetrix 6.0 cel files Affymetrix SNP 6.0 1,001
EGAD00010000150 WTCCC2 project samples from Ankylosing spondylitis Cohort Illumina_670k - Illuminus 2,005
EGAD00010000148 tumour samples using Affymetrix Genome-Wide SNP6.0 arrays Affymetrix_GenomeWide_SNP6.34 104
EGAD00010000144 Healthy volunteer collection of European Ancestry Illumin OmniExpress v1.0 - Illumina GenomeStudio 288
EGAD00010000130 Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples Illumina 300 Duo V2 - Bead Studio, Illumina 2
EGAD00010000124 Psoriasis cases as part of WTCCC2 phase 2 Illumina_670k - Illuminus 2,622
EGAD00010000096 DBA case samples using 250K Nsp Affymetrix_250K(Nsp) - gtype 27
EGAD00010000052 Monozygotic twins that are discordant for schizophrenia (Genotyping) CompleteGenomics build 1.4.2.8 - CG Build 1.4.2.8 36
EGAD00010000051 Cell line derived from microdissected primary pancreatic ductal adenocarcinoma tissues Affymetrix SNP 6.0 15
EGAD00010000050 Matched tumor-negative pancreas tissues Affymetrix SNP 6.0 15
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
EGAD00001002251 Exome sequencing of families with Congenital Heart Defects of diverse sub-phenotypes. Comprises both parent-offspring trios for sporadic cases and multiplex families. Collaboration with David Brook, University of Nottingham. Funded by the British Heart Foundation. Illumina HiSeq 2000; 646
EGAD00001002250 mRNA-Seq, HiSeq 2000 dataset of the Cell-line use case Illumina HiSeq 2000; 1
EGAD00001002247 The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analyses. While they have proved successful at mapping genomic loci that influence human diseases, like type 2 diabetes, much of the heritability remains unexplained. In this study, we use next generation sequencing and genotyping technologies to query for lower frequency variants in the human genome. Thereby, allowing a deeper characterization of the spectrum of alleles associated with type 2 diabetes risk, and a better assessment of the genes that play a role in the etiology of type 2 diabetes development.  We studied 1,326 T2D cases and 1,331 normoglycemic controls from Northern and Central Europe (Sweden, Finland, UK, and Germany).  To efficiently characterize the entire genome sequence of each individual, we performed low-coverage (~5x) whole-genome sequencing, augmented by deep coverage (~100x) sequencing of the exome, and dense (2.5M) single nucleotide polymorphism (SNP) genotyping using the HumanOmni2.5 array.  The data deposited in EGA will include all the Swedish, Finnish, UK, and German samples. 2,872
EGAD00001002246 The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analyses. While they have proved successful at mapping genomic loci that influence human diseases, like type 2 diabetes, much of the heritability remains unexplained. In this study, we use next generation sequencing and genotyping technologies to query for lower frequency variants in the human genome. Thereby, allowing a deeper characterization of the spectrum of alleles associated with type 2 diabetes risk, and a better assessment of the genes that play a role in the etiology of type 2 diabetes development.  We studied 1,326 T2D cases and 1,331 normoglycemic controls from Northern and Central Europe (Sweden, Finland, UK, and Germany).  To efficiently characterize the entire genome sequence of each individual, we performed low-coverage (~5x) whole-genome sequencing, augmented by deep coverage (~100x) sequencing of the exome, and dense (2.5M) single nucleotide polymorphism (SNP) genotyping using the HumanOmni2.5 array.  The data deposited in EGA will include all the Swedish, Finnish, UK, and German samples. 13,007
EGAD00001002244 WGS data for cell lines and patient samples Illumina HiSeq 2500; 4
EGAD00001002243 RNA-seq data for patient samples Illumina HiSeq 2500; 2
EGAD00001002239 June 2016 data update (bam/fastq for CEMT0062, CEMT0068, CEMT0072, CEMT0086, CEMT0087 ChIP-Seq and RNA-Seq) 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; 10
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
EGAD00001002237 The disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription; co-ordinated secondary alterations in transcriptional pathways; and increased transcriptional noise. To catalogue the rules governing how somatic mutation Overall, 59% of 6980 exonic substitutions were expressed. Compared to other classes, nonsense mutations showed lower expression levels than expected with patterns characteristic of nonsense-mediated decay. 14% of 4234 genomic rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusion transcripts and premature poly-adenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes may drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data therefore reveals the rules by which transcriptional machinery interprets somatic mutation. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 59
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
EGAD00001002235 Many studies over the past 10 years, culminating in the recent report of the International Stem Cell Initiative (ISCI, 2011) have shown that hPSC acquire genetic and epigenetic changes during their time in culture. Many of the genetic changes are non-random and recurrent, probably because they provide a selective growth advantage to the undifferentiated cells. Some are shared by embryonal carcinoma cells, the malignant counterparts of ES cells. The origins of these growth advantages are poorly understood, but may come from altered cell cycle dynamics, resistance to apoptosis or altered patterns of differentiation. Less is known about the nature and consequences of epigenetic changes, but it is likely that these similarly affect hPSC behaviour; e.g., enhanced expression of DLK1, an imprinted gene, is associated with altered hPSC growth (Enver et al 2005). Inevitably, these genetic and epigenetic changes will impact on our ability to use hPSC for regenerative medicine, either because malignant transformation of the undifferentiated cells or their differentiated derivatives to be used for transplantation compromises safety, or because they impede the function of those differentiated derivatives, or because they affect the efficiency with which the undifferentiated cells can be expanded and differentiated into desired cell types. Focusing initially upon the existing clinical grade hESC lines, later moving to iPSC, we will Consolidate and extend knowledge of the rate, type and functional impact of the genetic variations that occur during hPSC culture. We will use whole genome and exome sequencing as well as SNP arrays, together with clonal analysis and other cytogenetics techniques. Common changes will be compared with those found in the normal human population, at low frequency in the original cell population or observed during iPSC generation in the HIPSCI project currently based at the WTSI. These studies will provide a better understanding of the range of genetic changes that occur in hPSC beyond the CNVs already identified. In conjunction with cancer genome resources and expertise at WTSI, bioinformatic analyses of these hPSC data will allow us to assess potential impact on hPSC behaviour pertinent to applications in regenerative medicine, notably the likelihood that specific changes arising in undifferentiated PSC cultures may be associated with potential malignant transformation of differentiated progeny. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 80
EGAD00001002234 This study involves mutagenizing C32, a melanoma cell line, with ENU to identify those mutations which engender resistance to a targeted treatment. Illumina HiSeq 2000; 84
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
EGAD00001002232 Mapping genetic evolution of pancreatic cancer precursor lesions such as IPMNs and PanINs. Illumina HiSeq 2000; 20
EGAD00001002231 Many studies over the past 10 years, culminating in the recent report of the International Stem Cell Initiative (ISCI, 2011) have shown that hPSC acquire genetic and epigenetic changes during their time in culture. Many of the genetic changes are non-random and recurrent, probably because they provide a selective growth advantage to the undifferentiated cells. Some are shared by embryonal carcinoma cells, the malignant counterparts of ES cells. The origins of these growth advantages are poorly understood, but may come from altered cell cycle dynamics, resistance to apoptosis or altered patterns of differentiation. Less is known about the nature and consequences of epigenetic changes, but it is likely that these similarly affect hPSC behaviour; e.g., enhanced expression of DLK1, an imprinted gene, is associated with altered hPSC growth (Enver et al 2005). Inevitably, these genetic and epigenetic changes will impact on our ability to use hPSC for regenerative medicine, either because malignant transformation of the undifferentiated cells or their differentiated derivatives to be used for transplantation compromises safety, or because they impede the function of those differentiated derivatives, or because they affect the efficiency with which the undifferentiated cells can be expanded and differentiated into desired cell types. Focusing initially upon the existing clinical grade hESC lines, later moving to iPSC, we will Consolidate and extend knowledge of the rate, type and functional impact of the genetic variations that occur during hPSC culture. We will use whole genome and exome sequencing as well as SNP arrays, together with clonal analysis and other cytogenetics techniques. Common changes will be compared with those found in the normal human population, at low frequency in the original cell population or observed during iPSC generation in the HIPSCI project currently based at the WTSI. These studies will provide a better understanding of the range of genetic changes that occur in hPSC beyond the CNVs already identified. In conjunction with cancer genome resources and expertise at WTSI, bioinformatic analyses of these hPSC data will allow us to assess potential impact on hPSC behaviour pertinent to applications in regenerative medicine, notably the likelihood that specific changes arising in undifferentiated PSC cultures may be associated with potential malignant transformation of differentiated progeny. This data is part of a pre-publication release. For information on the proper use of pre-publication data shred by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ HiSeq X Ten; 80
EGAD00001002230 Patient-derived xenografts (n=96) were derived from metastatic melanoma patients. RNA expression profiling will be preformed to study 1. HLA-typing and 2. the effect of the tumour microenvironment on tumour growth This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 96
EGAD00001002229 Detection of BAP1 mutations in DNA from uveal melanoma and mesothelioma samples. Illumina HiSeq 2000; 22
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
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
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
EGAD00001002225 This study involves targeted sequencing of samples from myeloid malignancies at different timepoints to assess clonal evolution of malignancy a. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 147
EGAD00001002224 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; 170
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
EGAD00001002221 Whole exome sequencing of a subset of participants from the INTERVAL study. Illumina HiSeq 2000; 4,502
EGAD00001002220 Enteropathy-associated T-cell lymphoma (EATL), a rare and aggressive intestinal malignancy of intraepithelial T lymphocytes, comprises two disease variants (EATL-I and EATL-II) differing in clinical characteristics and pathological features. Here we report findings derived from whole exome sequencing of 15 EATL-II tumor-normal tissue pairs. 15
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
EGAD00001002216 RNA-Seq on an Ion Torrent Proton of corresponding tumor material of two metastasized breast cancer patients (Breast7, Breast13). Ion Torrent Proton; 2
EGAD00001002215 Low coverage whole genome sequencing plasma DNA from 50 male, 54 female non-cancer donors. For the analysis of nucleosomal positioning all data from the non-cancer controls were merged. Furthermore, two patients with metastasized breast cancer were sequenced on a NextSeq with higher depth. NextSeq 550;, Illumina MiSeq; 108
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
EGAD00001002212 Non-syndromic cases of congenital heart defects (CHD) exhibit variable modes of inheritance (Mendelian and non-Mendelian). Several studies have identified strong candidates in humans by taking a candidate gene approach as well as by using whole exome next generation sequencing (NGS). So far these studies could only explain a minor fraction of the observed phenotype in humans, most of them in syndromic cases and no single study has focused on the subset of cases with left ventricular outflow tract obstruction (LVOTO). To discover novel disease-causing genes a large cohort of patients with LVOTO, approximately 100 cases, 25 families and 100 trios have been exome sequenced. This study based on NGS sequencing data yielded several known and novel compelling candidate genes, such as MYH6, NR2F2 and MYH11, but also novel ones, such as ITGB4. To evaluate the significance of our findings in a replication cohort we assembled another 1614 cases with an LVOTO phenotype from our collaborators in Toronto, Berlin and Amsterdam. Targeted resequencing in this additional cohort will help to find additional cases with mutations in the identified candidate genes to strengthen genotype-phenotype association. We will use control data from the INTERVAL project for case/control analyses The pulldowns will be performed as 24-plex ISC with 192 or greater indexes, and the sequencing will be performed with 192 samples per lane, requiring 9 lanes of sequencing. Illumina HiSeq 2000; 1,376
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
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
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
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
EGAD00001002207 Our aim is to identify genes involved in resistance to anti-cancer therapies. In order to do this we have taken advantage of a lentiviral vector (LV)-based insertional mutagen to mutagenize cancer cell lines. LV-transduced cell lines were then treated with anti-cancer therapies and the emergence of resistant clones scored. DNA from pools of resistant clones was collected, subjected to custom capture by baits designed against the LV sequence, and then sequenced to identify the LV-genomic junction. We hope that the identification of recurrently targeted genes in resistant cell population will allow us to identify genes that mediate drug resistance. Illumina MiSeq;, Illumina HiSeq 2500; 71
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
EGAD00001002205 The BLUEPRINT project is a large-scale project investigating epigenetic mechanisms involved in blood formation, in health and disease. The human variation workpackage (WP10, led by NS) of the project seeks to characterize the effect of common sequence variation on the epigenome status of a cell. To do this, the project will use highly purified blood cells to minimise "experimental noise" and therefore enhance the power to discover modest effects. Two peripheral blood cell types, the CD14+CD16- monocyte (an important central orchestrator of adaptive immunity and a bridge between innate and adaptive immunity) and the CD65+CD9- neutrophilic granulocyte (the frontline cell for innate immunity) have been selected for this purpose. The two types of cells will be obtained at high purity from adult blood (AB) of 200 healthy males and females, respectively. Cells will be purified by using already validated and fully operational protocols that are based on density gradient centrifugation of the buffy coat obtained from whole blood, followed by magnetic bead-based purification using monoclonal antibodies against Cluster of Differentiation (CD) lineage-specific cell surface markers. Units of 475 ml of AB will be obtained from consenting volunteers of the Cambridge BioResource (CBR), a panel of 10,000 healthy volunteers local to Cambridge who have already consented to participate in biomedical research and of whom biological samples (DNA, plasma, serum) and lifestyle data have been deposited in a repository and database, respectively. We are requesting funding from the Human Diversity project to sequence the genomes of the 200 CBR volunteers at low pass (6x coverage). Nuclei, DNA and RNA will be recovered from the purified cells and made available for RNA-seq, DNA-seq and ChIP-seq and genomic DNA for entire genome sequencing will be recovered from the DNA repository. Illumina HiSeq 2000;, Illumina HiSeq 2500; 155
EGAD00001002204 1006 Familial early onset gemrline CRC patients sequenced by the Molecular and Population Genetics group of the Institute of Cancer Research Illumina HiSeq 2500; 1,006
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
EGAD00001002200 Whole exome sequencing of families with Congenital Heart Defects (182 trios). Collaboration with David Brook, University of Nottingham. Illumina HiSeq 2000; 541
EGAD00001002199 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
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
EGAD00001002197 Recent GWAS studies have made extensive use of large eQTL data sets to functionally annotate index SNPs. With a large number of association signals located outside coding regions there has been an intense search among sequence variants affecting gene expression at the transcriptional level. However, little progress has been made in mapping regulatory variants that affect protein levels at the translational or post-translational level. It is now possible to undertake a protein QTL scan for focused sets of e.g. oxidized proteins by mass spectrometry. We have established a collaboration with a longitudinal, family-based study in France, the Stanislas cohort, which comprises circa 1000 nuclear families (4,295 individuals) and has follow up data for 10 years (three visits). We have undertaken a pilot study in a focus set of 257 subjects from 79 families with the aim to integrate GWAS, transcriptomic and DNA methylation data with proteomic data on a set of 100 proteins measured in PBMCs. We have already generated GWAS data using Illumina's core-exome chip as well as DNA methylation profiles with the 450K array. We propose to use RNA seq to generate transcriptomic data of the corresponding PBMCs. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 155
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
EGAD00001002195 The aim of this project is to identify rare genetic variants of large effect implicated in complex diseases by focusing on the study of cardiovascular diseases and related quantitative traits in a well characterized isolated population in Cilento area, Italy. The reference panel has been selected carefully in order to maximize the imputation coverage and quality on the all population samples. The selected individuals should meet three criteria: selected individuals should be chip-genotyped and closely related to the maximum number of chip-genotyped individuals so as to maximize imputation coverage; relatedness between selected individuals should be minimal, so as to minimize redundancy in genetic information of the reference panel. We perform exome sequencing on samples from 250 individuals from the Campora and Gioi-Cardile populations. Illumina HiSeq 2000; 247
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
EGAD00001002193 Single case of T-ALL carrying t(4;6), a novel translocation. Illumina HiSeq 2000; 1
EGAD00001002192 Additional sequencing data for 173 donors in EGAS00001000154, a study of Pancreatic Ductal Adenocarcinoma. WGS libraries were used for high-cellularity cases, WXS sequencing to high depth on low-cellularity cases. HiSeq 2xxx platform was used in all cases. The analysis files associated with this dataset are merged, de-duplicated bams aligned against GRCh37, one tumour and one normal bam per donor. 346
EGAD00001002191 Illumina HiSeq 2000; 28
EGAD00001002190 Single-end BAM files of the targeted deep sequencing analysis of several mtDNA candidate regions in blood and buccal-derived DNA of the corresponding twin pairs. Illumina MiSeq; 140
EGAD00001002189 paired-end BAM files of the sequencing analysis of the mtDNA polymerase gamma (POLG) gene in the MS-affected co-twins Illumina MiSeq; 54
EGAD00001002188 Paired-end BAM files of mitochondrial whole genome deep sequencing (mtWGDS) analysis Illumina HiSeq 2500; 105
EGAD00001002187 To identify transcriptome profile in this unique subset of gastric cancers, RNA-seq analyses were performed using frozen cancer tissue. Adjacent normal tissue of the same patients were used in differently expressed gene selection and fusion gene prediction. Illumina HiSeq 2500; 138
EGAD00001002186 Around 10% of patients who present in melanoma clinics have a first degree relative with a previous diagnosis of melanoma. While around 3% have three or more relatives who have been diagnosed with the disease. In this project we will whole genome sequence patients from large Dutch familial melanoma pedigrees to identify mutations in genes that drive melanomagenesis. The identification of these genes will facilitate the management of familial melanoma patients and their families. Illumina HiSeq 2000;, Illumina HiSeq 2500; 38
EGAD00001002185 Exome sequencing of 32 patient samples from Sri Lanka with the condition haemoglobin E beta thalassaemia Illumina HiSeq 2000; 32
EGAD00001002184 Sequencing of rare human histiocytic tumour Illumina HiSeq 2000; 2
EGAD00001002183 This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 96
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
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
EGAD00001002180 Targeted pulldown of genes known to be recurrently mutated in AML & MDS from patient and normal samples using Agilent Sureselect and for some cases also using Illumina Truseq technology. Illumina HiSeq 2000; 288
EGAD00001002179 Background: A rare subgroup of HIV infected individuals naturally controls infection without treatment. These ?elite controllers? constitute an important model for the natural control of HIV infection. Indeed, the study of these individuals may provide insights into strategies for the development of HIV vaccines. Although several HLA and chemokine alleles are known to be over-represented in elite controllers, only a small portion of HIV phenotypic variation is explained by known genetic variants. The elite controller phenotype is rare and distinct, representing the extreme of an infectious disease trait. As such, this phenotype may be partly explained by variation in host immune control, which may be characterized by differences in rare functional genetic variants. Genomic regions underlying elite control can be potentially identified by comparing the presence or frequency of variants in this group to that representing the opposite extreme. In this context, ?rapid progressors? is a group defined by its rapid immunological and clinical disease progression. Aim: To extend an existing study, in order to identify DNA sequence variants involved in the control of HIV infection with greater statistical resolution. Specifically, we aim to sequence up to 200 exomes from multiple cohort studies within the EuroCoord CASCADE collaboration (a collaboration of 25 HIV seroconversion cohort studies across Europe). Illumina HiSeq 2000; 183
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
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
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
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
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
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
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
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
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
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
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
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
EGAD00001002164 Exome from EGA00001001848 Illumina HiSeq 2000; 2
EGAD00001002163 Transcriptome from EGAS00001001846 Illumina HiSeq 2500; 1
EGAD00001002162 Exome Seq from EGAS00001001846 Illumina HiSeq 2500; 2
EGAD00001002161 Transcriptome from EGAS00001001845 Illumina HiSeq 2500; 1
EGAD00001002160 Exome Seq for EGAS00001001845 Illumina HiSeq 2500; 2
EGAD00001002159 Exome Seq for Study EGAS00001001844 Illumina HiSeq 2000; 2
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
EGAD00001002157 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: MELA-AU. 140
EGAD00001002156 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: ESAD-UK. 198
EGAD00001002155 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: LIRI-JP. 524
EGAD00001002154 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PAEN-AU. 98
EGAD00001002153 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PAEN-IT. 74
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
EGAD00001002149 Low coverage whole genome sequencing for the identification of somatic copy number alterations (SCNA) and focal amplification mapping in plasma DNA of prostate cancer patients Illumina MiSeq; 95
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
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
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
EGAD00001002143 We expanded our previous collection of longitudinal GBM patients (EGAS00001001041) by recruiting 21 additional patients. Tumor specimens were subjected to whole-exome sequencing (16 of 21 cases, with the matched normal/blood) and transcriptome sequencing (16 of 21 cases). Illumina HiSeq 2500; 86
EGAD00001002138 WGS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 36
EGAD00001002137 WGBS data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 15
EGAD00001002136 RNA sequencing data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000; 25
EGAD00001002135 ChIPseq data of Atypical teratoid/rhabdoid tumors (ATRT) Illumina HiSeq 2000;, Illumina HiSeq 2500; 15
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
EGAD00001002132 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PACA-AU. 192
EGAD00001002130 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: CLLE-ES. 194
EGAD00001002129 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: BRCA-EU. 158
EGAD00001002128 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PRAD-CA. 244
EGAD00001002127 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PBCA-DE. 496
EGAD00001002126 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: PRAD-UK. 116
EGAD00001002125 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: BOCA-UK. 148
EGAD00001002124 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: EOPC-DE. 113
EGAD00001002123 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: MALY-DE. 202
EGAD00001002122 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: BRCA-UK. 90
EGAD00001002121 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: BTCA-SG. 24
EGAD00001002120 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: ORCA-IN. 26
EGAD00001002119 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: LAML-KR. 18
EGAD00001002118 Raw data (fastq files) from targeted resequencing of AML patients at relapse Illumina MiSeq; 24
EGAD00001002117 Raw data (fastq files) from targeted resequencing of AML patients at diagnosis Illumina MiSeq; 68
EGAD00001002116 Raw data (fastq files) from whole exome sequencing of AML patients (paired diagnosis and complete remission samples) Illumina HiSeq 2000; 12
EGAD00001002113 Mate pair whole genome sequencing data from 15 pediatric BCP ALL cases. Reference genome: hg19. Alignment: BWA 0.7.9a. NextSeq 500; 15
EGAD00001002112 RNA-seq data from 195 pediatric BCP-ALL cases. Alignment: TopHat 2.0.7. Reference genome: hg19. Illumina HiScanSQ; 195
EGAD00001002111 70 Whole exome sequencing from 9 patients with DIPG for project Spatial and Temporal Homogeneity of Driver Mutations in Diffuse Intrinsic Pointine Glioma Illumina HiSeq 2500; 70
EGAD00001002110 Chronic lymphocytic leukemia (CLL) is characterized by substantial clinical heterogeneity, despite relatively few genetic alterations. To provide a basis for studying epigenome deregulation in CLL, we established genome-wide chromatin accessibility maps for 88 CLL samples from 55 patients using the ATAC-seq assay, and we also performed ChIPmentation and RNA-seq profiling for ten representative samples. Based on the resulting dataset, we devised and applied a bioinformatic method that links chromatin profiles to clinical annotations. Our analysis identified sample-specific variation on top of a shared core of CLL regulatory regions. IGHV mutation status – which distinguishes the two major subtypes of CLL – was accurately predicted by the chromatin profiles, and gene regulatory networks inferred for IGHV-mutated vs. IGHV-unmutated samples identified characteristic differences between these two disease subtypes. In summary, we discovered widespread heterogeneity in the chromatin landscape of CLL, established a community resource for studying epigenome deregulation in leukemia, and demonstrated the feasibility of chromatin accessibility mapping in cancer cohorts and clinical research. Illumina HiSeq 3000; 138
EGAD00001002109 TSACP TruSeq Amplicon Panel dataset for the TraIT cell line use case 5
EGAD00001002108 Exome and targeted amplicon sequencing data for tumor, germline and plasma samples from a patient with metastatic breast cancer. Illumina MiSeq; 30
EGAD00001002071 qDNAseq shallow sequencing dataset of the cell line use case. 5
EGAD00001002069 Complete genomics data for VCaP and PC346c. 2
EGAD00001002068 The dataset consists of 232 RNA-seq samples (whole blood) obtained from healthy female from the TwinsUK adult registry cohort. The samples were obtained at two time points separated on average by 22 months. Illumina HiSeq 2000; 232
EGAD00001002066 KRAS mutant CRC is currently in clinical trial with a combination of a MEK and Akt inhibitor. These patients will likely develop resistance to this combination. We aim to identify the mechanisms of resistance via ENU mutagenesis, with a view to identifying additional therapeutics which have the ability to overcome this resistance. Illumina HiSeq 2500; 86
EGAD00001002065 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 2500; 50
EGAD00001002064 Zhong Shan Hospital liver tumor single cell sequencing: 111 single cell and 6 tissues Illumina HiSeq 2500; 117
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
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
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
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
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
EGAD00001002046 Genome and transcriptome sequence data from a liposarcoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 3
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
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
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
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
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
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
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
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
EGAD00001002037 Genome sequence data from an adrenal cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study 2
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
EGAD00001002016 ICGC PCAWG Dataset for WGS BAM aligned using BWA MEM. Project: LICA-FR. 12
EGAD00001002015 The use of reference DNA standards generated from cancer cell lines sequenced in the Cancer Genome Project to establish the sensitivity, specificity, accuracy and reproducibility of the WTSI GCLP sequencing pipeline Illumina HiSeq 2000; 57
EGAD00001002014 Isolated populations have unique population genetics characteristics that can help boost power in genetic association studies for complex traits. Leveraging these advantageous characteristics requires an in-depth understanding of parameters that have shaped sequence variation in isolates. This study performs a comprehensive investigation of these parameters using low-depth whole genome sequencing (WGS) across multiple isolates. 6,840
EGAD00001002012 ChIPseq data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. 16
EGAD00001002011 RNA sequencing data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. 64
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
EGAD00001002009 Exome sequencing of high-risk prostate cancer Illumina HiSeq 2000; 78
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
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
EGAD00001002001 Mapped data (bam files) for high-throughput whole genome sequence data for 83 modern Aboriginal Australians 83 bai,bam
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
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
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
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
EGAD00001001995 Whole genome sequencing (30X) using Hiseq X TEN on 4 HCC cell lines, primary HCCs and early-passage PDCs. HiSeq X Ten; 12
EGAD00001001991 Meta-genomic sequencing of 1,200 LifeLines-DEEP participants Illumina HiSeq 2000; 1,135
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
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
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
EGAD00001001984 To identify recurrent somatic alterations in this unique subset of gastric cancers, whole exome and SNP6 analyses were performed using frozen cancer tissue. The somatic mutation analyses were also performed using blood of the same patients. Illumina HiSeq 2500; 160 bam
EGAD00001001983 Immunoglobulin heavy chain gene high throughput sequencing of paediatric acute lymphoblastic leukaemia samples, for the purpose of MRD on the Illumina MiSeq platform. This dataset contains summary fastq files and raw bcl files from the MiSeq for this study. In the study we identify errors associated with multiplexing that could potentially impact on the accuracy of MRD analysis. We optimise a strategy combining high purity, sequence-optimised oligonucleotides, dual-indexing and an error-aware demultiplexing approach to minimise errors and maximise sensitivity. Illumina MiSeq; 491 fastq
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
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
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
EGAD00001001973 Exome sequencing of 184 samples from consanguineous families with different congenital heart defects collected at KAIMRC, Riyadh, Saudi Arabia. Illumina HiSeq 2000;, Illumina HiSeq 2500; 179 cram
EGAD00001001960 Illumina HiSeq 2000; 171
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
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
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
EGAD00001001956 ICGC Release 21 for PACA-CA from OICR Illumina HiSeq 2000;, Illumina HiSeq 2500; 516
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
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
EGAD00001001946 The Prenatal Assessment of Genomes and Exomes (PAGE) study is a multicentre prospective trial, performing exome sequence analysis on samples from 1000 families with structural anomalies in prenatal ultrasound screening but normal aneuploidy results. The data will enable discovery of novel genetic disorders and increase the diagnostic yield. Where appropriate, results will be reported back to the families at the end of the pregnancy, after thorough clinical review. Ultimately, the translation of the acquired know-how into cost-effective prenatal diagnostic sequencing will improve genetics-derived prognoses and allow more informed parental counselling as well as management of pregnancy and childbirth. Illumina HiSeq 2000; 489 cram
EGAD00001001943 Here, we studied well-phenotyped individuals from the Flemish Gut Flora Project (FGFP, N=1,106, Belgium) and the effect of environments on microbiome. The 69 major significant phenotypes found in this study are provided. 1,106 phenotype_file
EGAD00001001941 Variants derived from mapped whole transcriptome RNA-Seq data from 476 human samples of early stage urothelial carcinoma. 476
EGAD00001001940 Un-mapped whole transcriptome RNA-Seq data from 476 human samples of early stage urothelial carcinoma. Illumina HiSeq 2000; 476
EGAD00001001939 Mapped whole transcriptome RNA-Seq data from 476 human samples of early stage urothelial carcinoma. Illumina HiSeq 2000; 476
EGAD00001001938 DNA from each sample (100ng) was sheared on Covaris S220 (Covaris): duty cycle - 10%, intensity -5.0, bursts per sec - 200, duration - 300 sec, mode - frequency sweeping, power - 23V, temperature -5:5 ?C to 6 ?C, water level - 13. Libraries were prepared with the TruSeq Nano DNA LT Sample Prep Kit (Illumina) using a modi?ed protocol - Sample Puri?cation Beads were replaced by Agencourt AMPure XP beads (Beckman Coultier) and size selection after the End Repair was done to remove only the short fragments. Quality and quantity for contructed libraries were assessed with DNA 7500 kit on Agilent 2100 Bioanalyzer and with Kapa Quanti?cation kit (KAPA Biosystems) on 7900HT Fast Real-Time PCR System (Applied Biosystems) according to the supplier's recommendations, respectively. Libraries from 18 barcoded samples were pooled together in equimolar amounts and each pool was loaded on a single lane of a HiSeq Single End Flowcell (Illumina), followed by cluster generation on a cBot (Illumina) and sequencing on a HiSeq 2500 (Illumina) in a single-read 50bp mode. Reads were aligned using bwa-mem v0.7.12-r1039 [10] to the 1000 genomes version of human genome build GRCh37. Picard (http://picard.sourceforge.net) was used to remove duplicate reads. Illumina HiSeq 2500; 60 bam
EGAD00001001937 Targeted sequencing of 48 amplicons in TP53, PTEN, EGFR, PIK3CA, KRAS and BRAF genes was performed as described previously [Forshew, STM 2012]. All libraries were pooled and quantify using DNA 1000 kit on Agilent 2100 Bioanalyzer and KAPA SYBR FAST ABI Prism qPCR Kit (KAPA Biosystems) on 7900HT Fast Real-Time PCR System (Applied Biosystems) according to the supplier's recommendations. Reads were aligned using bwa-mem v0.7.12-r1039 to the 1000 genomes version of human genome build GRCh37, retaining duplicate reads. Illumina MiSeq; 66 bam
EGAD00001001936 Firs 1106 16S rDNA data for the Flemish Gut Flora Project Illumina MiSeq; 1,106 fastq
EGAD00001001935 Cancer amplicon reads consisting of BAM paired end reads from primary multiple myeloma samples. Illumina MiSeq; 88 bam
EGAD00001001934 Pilot study for mutagen exposure work to be carried out as part of mutational signatures project. Illumina HiSeq 2500; 17 cram
EGAD00001001933 HipSci-RNAseq_REL-2016-01_RNA sequencing_healthy volunteers Illumina HiSeq 2000; 181
EGAD00001001932 HipSci-WES_REL-2016-01_Whole exome sequencing_healthy volunteers Illumina HiSeq 2000; 262
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
EGAD00001001929 This study is to look at mutational signatures in a haploid iPS lines carrying frame-shift mutations in DNA repair genes. This will help establish causative roles for particular signatures. HiSeq X Ten; 81 cram
EGAD00001001928 This study will analyse the guide sequence which were used for making mutations in the Cas9-expressing cells. We used GeCKO v2 library which were released by Feng Zhang, 2014. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2500; 61 cram
EGAD00001001927 Illumina HiSeq 2000; 27 fastq
EGAD00001001925 1461 Neuropathological and clinically characterised cases from the MRC Brain Bank 1,461 vcf
EGAD00001001923 RNA sequence data for conditionally reprogrammed cells from patient HUB_5 Illumina HiSeq 2500; 1
EGAD00001001922 RNA-seq from normal human tissues (2 x 250 bp) Illumina HiSeq 2000; 14 fastq
EGAD00001001921 All pituitary samples Illumina HiSeq 2500; 84 bam
EGAD00001001920 TEST3 dataset containing 1 FASTQ file with mRNA reads. Illumina HiSeq 2500; 1 fastq
EGAD00001001917 PacBio data for mesothelioma cell line NCI-H2595. PacBio RS II; 1 fastq
EGAD00001001916 Targeted sequencing using SPET for Mesothelioma. Illumina HiSeq 2000; 207 fastq
EGAD00001001915 RNA-Seq data for Mesothelioma. Illumina HiSeq 2000; 211 fastq
EGAD00001001914 RNA-seq data for mesothelioma cell lines after spliceostatin (SSA) or control (DMSO) treatment. Illumina HiSeq 2000; 12 fastq
EGAD00001001913 Exome sequencing data for Mesothelioma Illumina HiSeq 2500; 198 fastq
EGAD00001001909 Paired-end whole exome sequenncing (Illumina) of primary enucleated retinoblastoma and matching lymphocyte DNA was performed to find somatic alterations that are related to oncogenesis. Illumina HiSeq 2500; 143 fastq
EGAD00001001900 DNA sequencing reads of human adult stem cell cultures from liver, colon and small intestine. Including biopsy or blood samples of the donors. HiSeq X Ten;, Illumina HiSeq 2500; 55 bam
EGAD00001001899 HDAC and PI3K Antagonists Cooperate to Inhibit Growth of MYC-driven Medulloblastoma 102 bam
EGAD00001001898 The study will investigate serial samples from the same patient taken at the time of MGUS or SMM diagnosis, and later at the time of evolution towards MM. Samples will be sequenced by whole genome along with a matched normal to obtain the highest possible amount of information toinvestigate genomic changes at disease evolution. HiSeq X Ten; 131 cram
EGAD00001001897 15x whole genome sequencing in samples from the Cretan Greek isolate collection HELIC MANOLIS HiSeq X Ten; 1,482 cram
EGAD00001001891 Whole genome bisulfite sequencing of pedbrain - medulloblastoma Illumina HiSeq 2000; 10 fastq
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
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
EGAD00001001887 Exome sequencing VCF files describing mutations during glioma progression. 82 vcf
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
EGAD00001001881 RIKEN collection of WGS reads for 543 liver cancer and matched blood or liver samples from 260 donors. Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 543 fastq
EGAD00001001880 RIKEN collection of RNA-seq reads for 458 liver cancer samples and matched normal liver from 247 donors. Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 458 fastq
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
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
EGAD00001001873 AML emerges as a consequence of accumulating independent genetic aberrations that direct regulation and/or dysfunction of genes resulting in aberrant activation of signalling pathways, resistance to apoptosis and uncontrolled proliferation. Given the significant heterogeneity of AML genomes, AML patients demonstrate a highly variable response rate and poor median survival in response to current chemotherapy regimens. For the past 4 years we have conducted gene expression profiling on purified bone marrow populations equating to normal haematopoietic stem and progenitor cells from healthy subjects and patients with de novo AML in order to identify AML signatures of aberrantly expressed genes in cancer versus normal. We are now applying a series of bioinformatic methodologies combined with clinical and conventional diagnostic data to establish novel genomics strategies for improved prognostication of AML. Additionally, we use our AML signatures to unravel oncogenic signalling pathway activities in AML patients and test inhibitory drugs for these pathways inn preclinical therapeutic programmes. We consider that superimposing GEP and clinical data for our AML patient cohort with additional data on their mutational status will significantly improve the prognostic power of the study as well as unravel yet unknown mutations associated with aberrant signalling activities of oncogenic pathways. Illumina HiSeq 2000; 215 cram
EGAD00001001872 Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases. Illumina HiSeq 2000; 333 cram
EGAD00001001870 Deep sequencing of 151 cancer genes in 6 synchronous CRC of 3 patients Illumina MiSeq; 6 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
EGAD00001001864 DATA FILES FOR PCGP MB WGS - Supersedes (EGAD00001000269) Illumina HiSeq 2000; 76 bam
EGAD00001001863 Exome data of PDX models. Illumina HiSeq 2500; 4 fastq
EGAD00001001862 RNA-seq of PDXs Illumina HiSeq 2000; 12 fastq
EGAD00001001860 19 vcf
EGAD00001001859 Illumina HiSeq 2500; 2 fastq
EGAD00001001858 Illumina HiSeq 2500; 2 fastq
EGAD00001001857 Illumina HiSeq 2000; 381 fastq
EGAD00001001856 100 other
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
EGAD00001001854 Exome sequencing of nine PCC/PGL tumors, SF and FFPE samples 18 bam
EGAD00001001853 In this dataset are the data from : - 17 patients studied by WGS - 49 patients studied by WES - 9 (/49) patients studied by RNASeq at 2 time points - the same 9 patients studied by ERRBS at 2 time points Illumina HiSeq 2000; 199 fastq
EGAD00001001852 Genomic DNA from Belgian control individuals was pooled. Then the genomic sequence of brain expressed miRNA genes was determined in the pools. Illumina MiSeq; 39 fastq
EGAD00001001851 The genomic sequence of brain expressed miRNA genes was sequenced in Belgian epilepsy patients. Illumina MiSeq; 163 fastq
EGAD00001001850 Genomic DNA from Swedish control individuals was pooled. Then the genomic sequence of brain expressed miRNA genes was determined in the pools. Illumina MiSeq; 149 fastq
EGAD00001001849 The genomic sequence of brain expressed miRNA genes was sequenced in Swedish schizophrenia patients Illumina MiSeq; 186 fastq
EGAD00001001848 DDD DATAFREEZE 2014-11-04: 4293 trios - VCF files 12,539 vcf
EGAD00001001847 4C-seq data was generated for regions of interest to confirm enhancer-gene promoter interactions Illumina HiSeq 2000; 1 fastq
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
EGAD00001001845 Leeds Melanoma Cohort Illumina HiSeq 2000; 16 cram
EGAD00001001844 Whole genome sequencing of 64 HER2-Positive Breast Cancer Illumina HiSeq 2000; 128
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
EGAD00001001693 Fastq files of RNAseq of 182 samples of biliary tract cancer Illumina HiSeq 2000; 182 fastq
EGAD00001001691 Esophageal cancer is one of the most aggressive cancers and the sixth leading cause of cancer death worldwide1. Approximately 70% of the global esophageal cancers occur in China and over 90% histopathological forms of this disease are esophageal squamous cell carcinoma (ESCC)2-3. Currently, there are limited clinical approaches for early diagnosis and treatment for ESCC, resulting in a 10% 5-year survival rate for the patients. Meanwhile, the full repertoire of genomic events leading to the pathogenesis of ESCC remains unclear. Here we show a comprehensive genomic analysis in 158 ESCC cases, as part of the International Cancer Genome Consortium (ICGC) Research Projects (http://icgc.org/icgc/cgp/72/371/1001734). We conducted whole-genome sequencing in 14 ESCC cases and whole-exome sequencing in 90 cases. Illumina HiSeq 2000; 208 fastq
EGAD00001001690 Tumor-Normal paired samples of PTC Illumina HiSeq 2000; 182 fastq
EGAD00001001689 Illumina HiSeq 2500; 27 fastq
EGAD00001001688 Illumina HiSeq 2500; 34 fastq
EGAD00001001687 Illumina HiSeq 2000; 56 bam,fastq
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
EGAD00001001676 Tagmentation-based whole-genome bisulfite sequencing of isolated cell types from healthy controls. Illumina HiSeq 2000; 12 fastq
EGAD00001001675 RNA-seq of peripheral blood samples from CLL patients. Illumina HiSeq 2000; 42 fastq
EGAD00001001674 Illumina MiSeq;, Illumina HiSeq 2500; 299 bam
EGAD00001001669 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; 42 bam
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
EGAD00001001666 LGG Epilepsy Cohort RNA-Seq Illumina HiSeq 2000; 34 bam
EGAD00001001665 LGG Epilepsy Cohort WXS Illumina HiSeq 2000; 61 bam
EGAD00001001664 LGG Epilepsy Cohort WGS Illumina HiSeq 2000; 18 bam
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
EGAD00001001662 Whole genome sequences of ACC primagrafts, Histone modification maps and transcription factor binding maps for ACC primagrafts and primary tumors. Processed ChIP-seq data is available on GEO under accession number GSE76465. Illumina MiSeq;, Illumina HiSeq 2000;, NextSeq 500;, Illumina HiSeq 2500; 58 bam,fastq
EGAD00001001661 Genotype and exome data for an Australian Aboriginal population: a reference panel for health-based research. 72 vcf
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
EGAD00001001659 Genome-wide analysis of mutations induced by ionizing radiation in human cells in different conditions. HiSeq X Ten; 12 cram
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
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
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
EGAD00001001646 Fastq files corresponding to RNA-Seq dataset for PTPN1 project (EGAS00001000554) Illumina Genome Analyzer II;, Illumina HiSeq 2000;, Illumina Genome Analyzer; 10 fastq
EGAD00001001645 Illumina Genome Analyzer II; 28
EGAD00001001644 MicroRNAs (miRs) have been recognized as promising biomarkers. It is unknown to what extent tumor-derived miRs are differentially expressed between primary colorectal cancers (pCRCs) and metastatic lesions, and to what extent the expression profiles of tumor tissue differ from the surrounding normal tissue. Next-generation sequencing (NGS) of 220 fresh-frozen samples, including paired primary and metastatic tumor tissue and non-tumorous tissue from 38 patients, revealed expression of 2245 known unique mature miRs and 515 novel candidate miRs. Unsupervised clustering of miR expression profiles of pCRC tissue with paired metastases did not separate the two entities, whereas unsupervised clustering of miR expression profiles of pCRC with normal colorectal mucosa demonstrated complete separation of the tumor samples from their paired normal mucosa. Two hundred and twenty-two miRs differentiated both pCRC and metastases from normal tissue samples (false discovery rate (FDR) <0.05). The highest expressed tumor-specific miRs were miR-21 and miR-92a, both previously described to be involved in CRC with potential as circulating biomarker for early detection. Only eight miRs, 0.5% of the analysed miR transcriptome, were differentially expressed between pCRC and the corresponding metastases (FDR <0.1), consisting of five known miRs (miR-320b, miR-320d, miR-3117, miR-1246 and miR-663b) and three novel candidate miRs (chr 1-2552-5p, chr 8-20656-5p and chr 10-25333-3p). These results indicate that previously unrecognized candidate miRs expressed in advanced CRC were identified using NGS. In addition, miR expression profiles of pCRC and metastatic lesions are highly comparable and may be of similar predictive value for prognosis or response to treatment in patients with advanced CRC. Illumina HiSeq 2000; 125 fastq
EGAD00001001643 RIKEN collection of WGS read of 59 multi-centric liver cancers or intra-haptatic metastasis and matched blood samples from 19 donors. Illumina HiSeq 2000; 59 fastq
EGAD00001001642 RIKEN collection of WGS reads of 530 liver cancer and matched blood samples from 260 donors. Illumina HiSeq 2000; 530 fastq
EGAD00001001639 Low depth (4x) Illumina HiSeq raw sequence data for 2000 Ugandans from various ethno-linguistic group from rural South-West Uganda (related individuals included). Illumina HiSeq 2000; 2,000
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
EGAD00001001637 Whole-genome sequencing at 1x of samples from the Cretan Greek isolate collection HELIC-MANOLIS. Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on an isolated population from Crete, Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation. Illumina HiSeq 2000; 1,003 bam,cram
EGAD00001001636 Whole-genome sequencing at 4x of 250 samples from the Greek isolate collection HELIC Illumina HiSeq 2000; 250 bam
EGAD00001001635 Whole genome sequencing detected structural rearrangements of TERT in 17/75 high stage neuroblastoma with 5 cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted immediate up- and down-stream regions of TERT, placing in 7 cases a super-enhancer close to the breakpoints. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high stage neuroblastoma, each associated with very poor prognosis. This submission contains all newly sequenced samples only. study_refcenter AMC 42 other
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
EGAD00001001633 BAM files for two WES TRAIP patients Illumina HiSeq 2000; 2 bam
EGAD00001001631 Illumina MiSeq; 334 fastq
EGAD00001001630 release_2: ICGC PedBrain: whole genome bisulfite sequencing Illumina HiSeq 2000; 108 readme_file
EGAD00001001629 Whole-genome somatic rearrangement and point mutation analysis in cell lines with induced telomere fusions. HiSeq X Ten; 20 cram
EGAD00001001628 Illumina MiSeq;, Illumina HiSeq 2500; 142 bam
EGAD00001001627 Illumina HiSeq 2000; 4 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
EGAD00001001625 release_2: ICGC PedBrain: whole genome sequencing Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 209 bam,fastq
EGAD00001001624 release_2: ICGC PedBrain: whole exome sequencing and Target-Seq Illumina HiSeq 2000; 188 bam
EGAD00001001623 BBMRI - BIOS project - Freeze 1 - Bam files 2,117 bam,contig_fasta
EGAD00001001622 BBMRI - BIOS project - Freeze 1 - Fastq files Illumina HiSeq 2000; 2,199 fastq
EGAD00001001621 release_2: ICGC PedBrain: ChIP-Seq Illumina HiSeq 2000; 31 fastq
EGAD00001001620 release_2: ICGC PedBrain: RNA sequencing Illumina HiSeq 2000; 45 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
EGAD00001001616 2 bam
EGAD00001001615 10 bam
EGAD00001001614 26 bam
EGAD00001001613 10 bam
EGAD00001001609 Maternal Plasma RNA Sequencing for Genomewide Transcriptomic Profiling and Identification of Pregnancy-Associated Transcripts 14 bam
EGAD00001001608 Aligned BAM files of whole exome sequencing of 20 syCRCs and 10 normal counterparts. Each sample of 4 patients (S13, S3, S12 and S6) underwent two sequencing rounds. Illumina HiSeq 2000;, Illumina HiSeq 2500; 42 bam
EGAD00001001607 In this dataset, 16 trios- primary tumor, relapse and corresponding normals- for patients with neuroblastoma are provided. For one patient, more than one relapse was available for the analyses. Illumina HiSeq 2000; 50 bam
EGAD00001001602 Illumina HiSeq 2000; 1 fastq
EGAD00001001601 The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription influence type 2 diabetes (T2D) predisposition and glucose homeostasis. However, the specific genes through which these regulatory variants act remain poorly characterized. To identify such effector transcripts for T2D and glycemic traits, we generated expression quantitative trait locus (eQTL) data in 118 human islet samples using RNA-sequencing and high-density genotyping. Illumina HiSeq 2000; 118 vcf
EGAD00001001600 PCR and MiSeq validation for early embryonic substitution candidates from 400 Breast cancer patients Illumina MiSeq; 2 cram
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
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
EGAD00001001595 ICGC PACA-CA Release 20 Illumina HiSeq 2000;, Illumina HiSeq 2500; 516 bam,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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
EGAD00001001466 Chronic lymphocytic leukaemia (CLL) is a frequent and heterogeneous disease whose genetic alterations determining the clinicobiological behaviour are not fully understood. Here, we describe a comprehensive evaluation of the genomic landscape of 452 CLLs and 54 monoclonal B-lymphocytosis (MBL), a precursor disorder. This study provides an integrated portrait of the genomic landscape of CLL, identifies new recurrent mutations acting as drivers of the disease, and suggests clinical interventions which may improve the management of patients with this neoplasia. 300 bam
EGAD00001001464 Chronic lymphocytic leukaemia (CLL) is a frequent and heterogeneous disease whose genetic alterations determining the clinicobiological behaviour are not fully understood. Here, we describe a comprehensive evaluation of the genomic landscape of 452 CLLs and 54 monoclonal B-lymphocytosis (MBL), a precursor disorder. This study provides an integrated portrait of the genomic landscape of CLL, identifies new recurrent mutations acting as drivers of the disease, and suggests clinical interventions which may improve the management of patients with this neoplasia. 882 bam
EGAD00001001462 Exome sequencing of 142 samples with corresponding Sanger sequencing results for 409 variants and 321 negative sites. DNA library preps prepared with Illumina TruSeq sample preparation kit. The captured DNA libraries were PCR amplified using the supplied paired-end PCR primers. Sequencing was performed with an Illumina HiSeq2000 (SBS Kit v3, one pool per lane) generating 2x101-bp reads. Illumina HiSeq 2000;, Illumina HiSeq 2500; 142
EGAD00001001460 Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). Illumina HiSeq 2000; 62 cram
EGAD00001001459 Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer Illumina HiSeq 2000; 76 cram
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
EGAD00001001457 All samples from the "100" project Illumina HiSeq 2000; 238 bam
EGAD00001001456 1000Genomes imputed data set of 581 cases and 417 controls for male-pattern baldness 1 vcf
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
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
EGAD00001001452 Anaplastic oligodendrogliomas (AOs) are rare primary brain tumors which are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosome 1p/19q co-deletion and IDH mutation. We analyzed 51 AOs by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. 80% of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frame shift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumor type. Our analysis provides further insights into the unique and shared pathways driving AO. Illumina HiSeq 2000; 102 bam
EGAD00001001451 JMML targeted sequencing of candidate genes Illumina MiSeq; 75 bam
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
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
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
EGAD00001001447 Whole genome sequencing of single cell derived organoids from normal colon tissue and colorectal cancer. HiSeq X Ten; 19 cram
EGAD00001001446 Genomic and transcriptomic characterization of drug-resistant colon cancer stem cell lines. Illumina HiSeq 2000; 4 cram
EGAD00001001445 Deep sequencing of melanoma for driver mutations Illumina MiSeq; 3 cram
EGAD00001001444 Atypical teratoid/rhabdoid tumor (ATRT) is one of the most common brain tumors in infants and young children. Although the prognosis of ATRT patients is poor, some patients respond very well to current treatments, suggesting inter-tumor molecular heterogeneity. To investigate this further, we genetically and epigenetically analyzed a large cohort of ATRTs (n = 170). Three distinct molecular subgroups of ATRTs, associated with differences in demographics, tumor location and type of SMARCB1 alterations, were identified using DNA-methylation or gene expression analyses. Whole genome DNA- and RNA-sequencing found no other recurrent mutations explaining the differences between subgroups. However, whole genome bisulfite-sequencing and H3K27Ac ChIP-sequencing of primary tumors revealed clear differences in methylation patterns and enhancer landscapes, leading to the identification of subgroup-specific regulatory networks. Illumina HiSeq 2000;, Illumina HiSeq 2500; 55 fastq
EGAD00001001443 Illumina Genome Analyzer II; 199 fastq
EGAD00001001442 This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group Illumina HiSeq 2000; 86 bam,cram
EGAD00001001441 Despite the established role of the transcription factor MYC in cancer, little is known about the impact of a new class of transcriptional regulators, the long non-coding RNAs (lncRNAs), on the way MYC is able to influence cellular transcriptome. To this aim we have intersected RNA-sequencing data from two MYC-inducible cell lines and from a cohort of 91 mature B-cell lymphomas carrying, or not carrying, genetic variants resulting in MYC over-expression. By this approach, we identified 13 lncRNAs differentially expressed in IG-MYC-positive Burkitt lymphoma and regulated in the same direction by MYC in the model cell lines. Among them we focused on a lncRNA that we named MINCR, for MYC-Induced long Non-Coding RNA, showing a strong correlation with MYC expression in MYC-positive lymphomas and also in pancreatic ductal adenocarcinomas. To understand its cellular role we performed RNA interference (RNAi) experiments and found that MINCR knock-down is associated with a reduction in cellular viability, due to an impairment in cell cycle progression. Differential gene expression analysis following RNAi showed a strongly significant enrichment of cell cycle genes among the genes down-regulate following MINCR knock-down. Interestingly these genes are enriched in MYC binding sites in their promoters, suggesting that MINCR acts as a modulator of MYC transcriptional program. Accordingly, following MINCR knock-down, we observed a reduction in the binding of MYC to the promoters of selected cell cycle genes. Finally we provide evidences that down-regulation of AURKA, AURKB and CTD1 may explain the reduction in cellular proliferation observed upon MINCR knock-down. We therefore suggest that MINCR is a newly identified player in the MYC transcriptional network able to control the expression of cell cycle genes. Illumina HiSeq 2000;, Illumina HiSeq 2500; 49 fastq
EGAD00001001440 This project entailed generation of high depth WGS (30x) of 100 individuals from the general Greek population. HiSeq X Ten; 100 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
EGAD00001001438 HipSci-RNAseq_REL-2015-04_RNA sequencing_healthy volunteers Illumina HiSeq 2000; 131 cram
EGAD00001001437 HipSci-WES_REL-2015-04_Whole exome sequencing_healthy volunteers Illumina HiSeq 2000; 136 cram
EGAD00001001436 AB 5500 Genetic Analyzer; 4 bam
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
EGAD00001001433 PCGP Germline Study Whole Exome Sequencing Illumina HiSeq 2000; 850 bam
EGAD00001001432 PCGP Germline Study Whole Genome Sequencing Illumina HiSeq 2000; 1,334
EGAD00001001431 SCLC - RNA sequencing data Publication Peifer et al., 2012, Nature Genetics Illumina HiSeq 2000; 15 fastq
EGAD00001001430 Investigation into causal genes underlying anaplastic meningioma Illumina HiSeq 2000; 73 cram
EGAD00001001429 Profiling subclonal architecture and phylogeny in tumors by whole-genome sequence data mining and single-cell genome sequencing HiSeq X Ten; 2 cram
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
EGAD00001001427 Targeted cancer gene sequencing of samples enrolled in the SSGXVIII trial from Finland. Illumina HiSeq 2000; 312 cram
EGAD00001001426 Systematic next generation sequencing efforts are beginning to define the genomic landscape across a range of primary tumours, but we know very little of the mutational evolution that contributes to disease progression. We therefore propose to obtain a comprehensive description of genomic, transcriptomic and epigenomic changes in a cohort of matched primary and metastatic colorectal cancers, and additionally to explore the extent to which those mutations identified as recurrent in the metastatic setting are able to subvert normal biological processes using both genetically engineered mouse models and established cancer cell lines. This study will enable us to define to what extent primary tumour profiling can capture the biological processes operative in matched metastases as well as the significance of intratumoural heterogeneity. Illumina HiSeq 2000; 446 cram
EGAD00001001425 The objectives of this project are the identification of markers related to cancer therapy resistance in the blood of breast cancer patients and to study the genetic changes in cancer cells during this development of resistance. Whole genome amplified DNA from Circulating Tumor Cells (CTCs), selected during the course of systemic treatment from blood of metastatic breast cancer patients, will be exome sequenced . The patients selected for this study did not respond to therapy. Illumina HiSeq 2000; 149 cram
EGAD00001001424 We obtained paired longitudinal specimens from a total of 38 glioblastoma (GBM) patients (34 primary and 4 secondary GBM patients). Treatment-naive initial tumors were available for 35 cases; for the other 3 cases, we used the first available recurrent tumors in lieu of initial tumors. Tumor specimens were subjected to whole-exome sequencing (27 of 38 cases, with the matched normal/blood for 22 of the 27 cases) and transcriptome sequencing (30 of 38 cases). Illumina HiSeq 2000;, Illumina HiSeq 2500; 141 bam
EGAD00001001423 Illumina HiSeq 2000; 7 bam
EGAD00001001421 Clinical Implications of Genomic Alterations in the Tumour and Circulation of Pancreatic Cancer Patients Illumina MiSeq; 125 fastq
EGAD00001001419 DATA FILES FOR PCGP Dyer_iPSC ChIP-Seq Illumina HiSeq 2000; 1
EGAD00001001418 DATA FILES FOR PCGP Dyer_iPSC 5hmc Illumina HiSeq 2000; 8 bam
EGAD00001001416 DATA FILES FOR PCGP Dyer_iPSC TEBS Illumina HiSeq 2000; 18 bam
EGAD00001001415 DATA FILES FOR PCGP Dyer_iPSC WGS Illumina HiSeq 2000; 2 bam
EGAD00001001414 DATA FILES FOR PCGP Dyer_iPSC RNASEQ Illumina HiSeq 2000; 1
EGAD00001001413 DDD DATAFREEZE 2013-12-18: 1133 trios - README, family trios, phenotypes, validated DNMs (Ref: DDD Nature 2015) 3,335 readme_file,tab
EGAD00001001412 Whole genome sequencing of 48 tumor/normal pairs obtained from adult T-cell leukemia/lymphoma. This data set includes 11 full-pass WGS and 37 low-pass WGS data. Illumina HiSeq 2000;, HiSeq X Ten; 96 bam
EGAD00001001411 RNA sequencing of 57 tumor samples of adult T-cell leukemia/lymphoma as well as 3 samples of HTLV-1 carrier and 3 samples of healthy volunteers. Illumina HiSeq 2000; 63 bam
EGAD00001001410 Whole-exome sequencing of 81 tumor/normal pairs of adult T-cell leukemia/lymphoma Illumina HiSeq 2000; 162 bam
EGAD00001001409 Fastq data for ChIP-Seq (Input) 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; 48 fastq
EGAD00001001408 Fastq data for ChIP-Seq (H3K9me3) 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; 48 fastq
EGAD00001001407 Fastq data for ChIP-Seq (H3K4me3) 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; 48 fastq
EGAD00001001406 Fastq data for ChIP-Seq (H3K4me1) 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; 48 fastq
EGAD00001001405 Fastq data for ChIP-Seq (H3K36me3) 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; 48 fastq
EGAD00001001404 Fastq data for ChIP-Seq (H3K27me3) 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; 48 fastq
EGAD00001001403 Fastq data for ChIP-Seq (H3K27ac) 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; 48 fastq
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
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
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
EGAD00001001399 Data represent genome-wide DNA methylation profiles obtained by MethylCap-seq (Diagenode’s MethylCap-kit based purification followed by Illumina GAIIx sequencing), for 70 brain tissue samples, including 65 glioblastoma samples and 5 non-tumoral tissues (obtained from epilepsy surgery). Illumina Genome Analyzer IIx; 70 fastq
EGAD00001001398 We sequenced 205 patients who were suffering NSCLC with Exome sequencing method. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 147 fastq
EGAD00001001397 We sequenced 292 patients who were suffering NSCLC with Whole genome sequencing or Exome sequencing method. Illumina Genome Analyzer II;, Illumina HiSeq 2000; 72 fastq
EGAD00001001395 Background: Invasive lobular breast cancer (ILBC) is the second most common histological subtype after ductal breast cancer (IDBC). In spite of significant clinical and pathological differences, ILBC is still treated as IDBC. Here, we aimed at identifying recurrent genomic alterations in ILBC with potential clinical implications. Methods: Starting from 630 ILBC primary tumors with a median follow up of 10 years, we interrogated oncogenic substitutions and indels of 360 cancer genes and genome-wide copy number alterations in 413 and 170 ILBC samples, respectively, and correlated those findings with clinical, pathological, and outcome features. The Cancer Genome Atlas database was used for comparison of frequency estimates. Results: Besides the high mutation frequency of CDH1 in 65% of the tumors, alterations in one of the three key genes of the PI3K pathway, PIK3CA, PTEN and AKT1, were present in more than half of the cases. ERBB2 and ERBB3 were mutated in 5.1 and 3.6% of the tumors. FOXA1 mutations and ESR1 copy number gains were detected in 9% and 25% of the samples. All these alterations were more frequent in ILBC than IDBC. The histological diversity of ILBC was associated with specific genomic alterations, such as enrichment for ERBB2 mutations in the mixed, non-classic subtype, and for ARID1A mutations and ESR1 gains in the solid subtype. Finally, ERBB2 and AKT1 mutations were associated with short-term risk of relapse, and chromosome 1q and 11p gain with increased and decreased breast cancer free survival, respectively. Conclusion: ERBB2, ERBB3 and AKT1 mutations represent high prevalence therapeutic targets in ILBC. FOXA1 mutations and ESR1 gains urgently deserve dedicated clinical investigation, especially in the context of endocrine treatment. Illumina HiSeq 2000; 541
EGAD00001001394 Samples from Ross Innes et. al 2015 - doi:10.1038/ng.3357 Illumina HiSeq 2000; 101 bam
EGAD00001001393 The aim of this study is to assess translational changes in macrophages over a time course of Salmonella infection. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina HiSeq 2000; 52 cram
EGAD00001001391 Illumina HiSeq 2000; 3 bam
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
EGAD00001001389 Genome wide CRISPR screen was performed to find resistance to targeted drugs for melanoma and lung Illumina HiSeq 2500; 15 cram
EGAD00001001388 Whole-genome bisulfite sequencing (WGBS) on 30 breast cancer cases from the BASIS project. Illumina HiSeq 2000; 30
EGAD00001001387 Using high-throughput sequencing technologies and analytical tools, we conduct an exome sequencing study that will help understand the population genetics of a Croatian island isolate, in a sample of 200 subjects from the Adriatic island of Vis who were selected to reflect islanders with at least four known ancestors in grandparental line who are original islanders. Illumina HiSeq 2000; 193 bam
EGAD00001001385 Exome sequencing in 3 Möbius patients AB SOLiD 4 System; 3
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
EGAD00001001381 This dataset includes 69 sampels of whole-exome sequencing data of high-grade serous ovarian carcinoma (HGSOC). We included patients with advanced (International Federation of Gynecology and bstetrics [FIGO] stage IIIeIV) HGSOC for which biopsies were obtained during debulking surgery, the first at initial diagnosis and the second at disease relapse. Where possible, matched normal DNA from each participating patient was obtained from a whole-blood sample. Written informed consent was obtained from all patients and approved by the local ethics committee. Illumina HiSeq 2000; 69 fastq
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
EGAD00001001379 Illumina HiSeq 2000; 29 bam
EGAD00001001375 Samples will be from the BRF113683 (BREAK-3) study which is a Phase III Randomized, Open-label Study Comparing GSK2118436 to Dacarbazine (DTIC) in Previously Untreated Subjects With BRAF Mutation Positive Advanced (Stage III) or Metastatic (Stage IV) Melanoma (n=250 enrolled) *NGS [Agilent capture (Sanger V2 panel): 360 genes and 20 gene fusions; Illumina HiSEQ Sequencing] *CNV: [via NGS or Affy SNP 6.0 or Illumina Omni (TBD)] Bioinformatics: Analysis will be performed using core Sanger informatics pipelines similar to those previously described (Papaemmanuil E et al. (2013) Blood. 22:3616 -3627). Briefly, copy number analysis will be performed using the ASCAT algorithm, and base substitutions, small insertions and deletions using the CAVEMAN and Pindel algorithms, respectively. Statistical approaches including generalized linear models will be used to predict clinical variables such as maximum clinical response and duration of response using genetic data. Sanger and EBI to conduct analysis; Raw data and correlation with clinical endpoints to be analyzed by both EBI/Sanger and GSK (unique pipeline analyses to increase call confidence) Illumina HiSeq 2500; 169 cram
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
EGAD00001001372 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 low-coverage sequencing data for 100 Egyptian samples. Illumina HiSeq 2000; 100 cram
EGAD00001001364 This dataset contains whole exome data from 8 esophageal adenocarcinoma tumors, that has been subjected to multiregion sequencing, ranging from 3-8 regions per tumor. In total, 40 tumor samples and 8 normal blood samples have been sequenced on Illumina HiSeq 2500 at a median dept of 90x. Illumina HiSeq 2500; 47 bam
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
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
EGAD00001001360 The majority of neuroblastoma patients have tumors that initially respond to chemotherapy, but a large proportion of patients will experience therapy-resistant relapses. The molecular basis of this aggressive phenotype is unknown. Whole genome sequencing of 23 paired diagnostic and relapsed neuroblastomas showed clonal evolution from the diagnostic tumor with a median of 29 somatic mutations unique to the relapse sample. Eighteen of the 23 relapse tumors (78%) showed RAS-MAPK pathway mutations. Seven events were detected only in the relapse tumor while the others showed clonal enrichment. In neuroblastoma cell lines we also detected a high frequency of activating mutations in the RAS-MAPK pathway (11/18, 61%) and these lesions predicted for sensitivity to MEK inhibition in vitro and in vivo. Our findings provide a rationale for genetic characterization of relapse neuroblastoma and show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease. 221 other,vcf
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
EGAD00001001358 463 newly diagnosed patients from the UK Myeloma XI clinical trial (NCT01554852) underwent whole exome sequencing plus targeted capture of the IGH/K/L and MYC loci. 200 ng of DNA were processed using NEBNext DNA library prepartion kit and hybridised to the SureSelect Human All Exon V5 Plus. Four samples were pooled and run on one lane of a HiSeq 2000 using 76-bp paired end reads. DNA from CD138+ selected bone marrow cells (myeloma tumour) as well as peripheral white blood cells were analysed and somatic mutations detected. Illumina HiSeq 2000; 926 bam
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
EGAD00001001355 DDD DATAFREEZE 2013-12-18: 1133 trios - VCF files (Ref: DDD Nature 2015) 3,335 readme_file,tab,vcf
EGAD00001001354 Whole exome sequencing of around 700 inflammatory bowel disease cases.This data can only be used for the identification of IBD/immune-mediated disease loci. Illumina HiSeq 2000; 702 cram
EGAD00001001353 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 2 bam
EGAD00001001352 Data files for CONSERTING (WGS) Illumina HiSeq 2000; 38 bam
EGAD00001001351 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 2 bam
EGAD00001001350 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 8 bam,cram
EGAD00001001349 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 4 bam
EGAD00001001348 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Illumina HiSeq 2000; 8 bam,cram
EGAD00001001347 Exome sequencing of a case of lethal EBV-driven LPD Illumina HiSeq 2000; 3 cram
EGAD00001001346 PREDICT/Predicting individual response and resistance to VEGFR/mTOR pathway therapeutic intervention using biomarkers discovered through tumour functional genomics. HiSeq X Ten; 164 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
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
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
EGAD00001001341 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 158
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
EGAD00001001339 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 76
EGAD00001001338 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 49
EGAD00001001337 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000;, Illumina HiSeq 2500; 607
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
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
EGAD00001001334 We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 99
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
EGAD00001001332 Development of a method for separation and parallel sequencing of the genomes and transcriptomes of single cells. Illumina MiSeq;, HiSeq X Ten;, Illumina HiSeq 2500; 700 bam,cram
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
EGAD00001001330 In this experiment we have sequenced tumour normal pairs from patients presenting with CRC who have a prior history of inflammatory bowel disease. The idea is to identify driver mutations, new genes and novel pathways associated with the development of these malignancies. Illumina HiSeq 2000; 70 cram
EGAD00001001329 28 bam
EGAD00001001326 Whole genome sequencing of single adult t-cell leukemia/lymphoma case Illumina HiSeq 2000; 2 bam
EGAD00001001323 A comprehensive characterisation and analysis of human breast cancers through genome-wide approaches through transcriptomics. Illumina HiSeq 2000; 59
EGAD00001001322 A comprehensive characterisation and analysis of human breast cancers through whole-genome sequencing. Illumina HiSeq 2000; 196
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
EGAD00001001320 This is a study to test ATAC-seq protocols. CD4+ and CD8+ cells have been obtained from three different anatomical compartments. We aim to assay open-chromatin regions across these cells and perform comparative analyses. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq; 138 cram
EGAD00001001319 The aim of this study is to ascertain whether leukaemic mutations exist within the blood of people with otherwise normal haematopoeisis. To satisfy this aim we plan to look for 7 known leukaemic mutations in the whole blood DNA of a large cohort of blood donors who have normal haematopoesis. Genomic regions around mutational sites have been amplified using a 2 step PCR process which involves barcoding of individual patients Illumina MiSeq; 5,817 cram
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
EGAD00001001316 Exome sequence analysis of individuals with severe early onset inflammatory bowel disease, and their families. Individuals are ascertained through the COLORS in IBD study, which includes centres throughout UK and Europe. Illumina HiSeq 2000; 138 cram
EGAD00001001314 Sequence data from L1-amplicon libraries prepared from plasma-DNA from a set of 24 female controls and 18 male controls without malignant disease and samples from patients breast (n= 28) and prostate cancer patients (n=61). Illumina MiSeq; 125 fastq
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
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
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
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
EGAD00001001306 Human melanoma samples were collected pre, on, and progression on BRAF inhibitor therapy. RNA was extracted and run on RNA-seq. This has provided insights into different categories of BRAF inhibitor resistance mechanisms. Illumina HiSeq 2000; 38 bam
EGAD00001001305 Dataset contains WES data from 3 astrocytoma patients: blood as control, primary tumor and recurrent tumor 9 bam
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
EGAD00001001303 The dataset for the PROP1 study consists of samples of patients with combined pituitary hormone deficiency due to two most prevalent mutations in the PROP1 gene (c.301_302delGA and c.150delA) and healthy relatives and controls. All subjects were genotyped for 21 single nucleotide polymorphisms surrounding the PROP1 gene in order to assess the potential ancestral origin of the respective mutations. The genotype data are displayed in the vcf format. 328 vcf
EGAD00001001302 Illumina HiSeq 2500; 2 bam
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
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
EGAD00001001299 McGill EMC Release 4 for assay "H3K9me3" Illumina HiSeq 2500; 29 fastq
EGAD00001001298 McGill EMC Release 4 for assay "H3K27ac" Illumina HiSeq 2500; 36 fastq
EGAD00001001297 McGill EMC Release 4 for assay "H3K4me3" Illumina HiSeq 2500; 42 fastq
EGAD00001001296 McGill EMC Release 4 for assay "H3K4me1" Illumina HiSeq 2500; 41 fastq
EGAD00001001295 McGill EMC Release 4 for assay "H3K36me3" Illumina HiSeq 2500; 37 fastq
EGAD00001001294 McGill EMC Release 4 for assay "H3K27me3" Illumina HiSeq 2500; 32 fastq
EGAD00001001293 McGill EMC Release 4 for assay "ChIP-Seq Input" Illumina HiSeq 2500; 52 fastq
EGAD00001001292 McGill EMC Release 4 for assay "smRNA-seq": Transcriptome profiling by high-throughput sequencing Illumina HiSeq 2500; 6 fastq
EGAD00001001291 McGill EMC Release 4 for assay "mRNA-seq": Transcriptome profiling by high-throughput sequencing Illumina HiSeq 2500; 40 fastq
EGAD00001001290 McGill EMC Release 4 for assay "RNA-seq": Transcriptome profiling by high-throughput sequencing Illumina HiSeq 2500; 261 fastq
EGAD00001001289 McGill EMC Release 4 for assay "Bisulfite-seq": Methylation profiling by high-throughput sequencing Illumina HiSeq 2500; 44 fastq
EGAD00001001288 McGill EMC Release 4 in tissue "skeletal muscle tissue" Illumina HiSeq 2500; 29 fastq
EGAD00001001287 McGill EMC Release 4 in tissue "kidney" Illumina HiSeq 2500; 2 fastq
EGAD00001001286 McGill EMC Release 4 in tissue "Brodmann (1909) area 8;Brodmann (1909) area 9" Illumina HiSeq 2500; 1 fastq
EGAD00001001285 McGill EMC Release 4 in tissue "Brodmann (1909) area 44" Illumina HiSeq 2500; 1 fastq
EGAD00001001284 McGill EMC Release 4 in tissue "Brodmann (1909) area 11" Illumina HiSeq 2500; 1 fastq
EGAD00001001283 McGill EMC Release 4 in tissue "venous blood" for cell type "T cell" Illumina HiSeq 2500; 20 fastq
EGAD00001001282 McGill EMC Release 4 in tissue "venous blood" for cell type "Monocyte" Illumina HiSeq 2500; 82 fastq
EGAD00001001281 McGill EMC Release 4 in tissue "venous blood" for cell type "eosinophil" Illumina HiSeq 2500; 3 fastq
EGAD00001001280 McGill EMC Release 4 in tissue "venous blood" for cell type "CD4-positive, alpha-beta T cell" Illumina HiSeq 2500; 40 fastq
EGAD00001001279 McGill EMC Release 4 in tissue "venous blood" for cell type "CD4-positive helper T cell" Illumina HiSeq 2500; 55 fastq
EGAD00001001278 McGill EMC Release 4 in tissue "venous blood" for cell type "B cell" Illumina HiSeq 2500; 41 fastq
EGAD00001001277 McGill EMC Release 4 in tissue "fat pad" for cell type "fat cell" Illumina HiSeq 2500; 1 fastq
EGAD00001001276 McGill EMC Release 4 for cell type "induced pluripotent stem cell" Illumina HiSeq 2500; 8 fastq
EGAD00001001275 Illumina HiSeq 2000; 1 fastq
EGAD00001001274 Brain samples for this dataset were provided by the Medical Research Council Sudden Death Brain and Tissue Bank (Edinburgh, UK). All four individuals sampled were of European descent, neurologically normal during life and confirmed to be neuropathologically normal by a consultant neuropathologist using histology performed on sections prepared from paraffin-embedded tissue blocks. Twelve regions of the central nervous system were sampled from each individual. The regions studied were: cerebellar cortex, frontal cortex, temporal cortex, occipital cortex, hippocampus, the inferior olivary nucleus (sub-dissected from the medulla), putamen, substantia nigra, thalamus, hypothalamus, intralobular white matter and cervical spinal cord. Illumina HiSeq 2000; 48 bam
EGAD00001001273 Whole genome sequencing was performed with DNA extracted from fresh-frozen tumor and normal material. Short insert DNA libraries were prepared with the TruSeq DNA PCRfree sample preparation kit (Illumina) for paired-end sequencing at a minimum read length of 2x100bp. Human DNA libraries were sequenced to an average coverage of minimum 30x for both tumor and matched normal. Murine DNA libraries of tumor and matched normal were both sequenced to a coverage of 25x. Illumina HiSeq 2000; 100 bam
EGAD00001001272 Illumina HiSeq 2000; 15 fastq
EGAD00001001271 Around 50 samples of pre-invasive lung cancer lesions showing subsequent clinical and pathological progression or regression HiSeq X Ten; 50 cram
EGAD00001001270 Illumina HiSeq 2000; 196 bam
EGAD00001001269 Exome bam files of 75 Individuals From Multiply Affected Coeliac Families Illumina Genome Analyzer II;, Illumina Genome Analyzer IIx; 75 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
EGAD00001001267 Anaplastic meningiomas are a rare, malignant variant of meningioma. At present there is no effective treatment for this cancer. The aim of the study is to identify somatic mutations in anaplastic meningiomas. We plan to sequence a set of 500 known cancer genes in 50 anaplastic meningioma and corresponding peripheral blood DNA samples. Bioinformatics will be used to analyse the results to assess the probability of these mutations being causal and so likely of critical importance for the tumour growth. Identification of these mutations will guide selection of appropriate compounds to effectively treat the disease. HiSeq X Ten; 60 cram
EGAD00001001266 Whole genome sequencing of primary angiosarcoma HiSeq X Ten; 12 cram
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
EGAD00001001264 We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. Illumina HiSeq 2000; 223 cram
EGAD00001001263 Unaligned bam of 31 samples derived from blood Illumina Genome Analyzer IIx; 31 bam
EGAD00001001262 Unaligned bam of 31 samples derived from primary tumor Illumina HiSeq 2000;, Illumina Genome Analyzer IIx; 31 bam
EGAD00001001261 Bisulfite-Seq of CD14-positive, CD16-negative classical monocyte samples for methylome saturation and COMET analysis Illumina HiSeq 2000; 2 bam,readme_file
EGAD00001001260 Illumina HiSeq 2000; 2 fastq
EGAD00001001259 Illumina HiSeq 2000; 2 fastq
EGAD00001001258 Illumina HiSeq 2000; 5 fastq
EGAD00001001257 Illumina HiSeq 2000; 3 fastq
EGAD00001001256 Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping. Illumina HiSeq 2000; 186 bam
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
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
EGAD00001001251 Low coverage (4-6x) sequencing on samples from population cohorts (Finrisk, Health2000) will be done at Wellcome Trust Sanger Institute (WTSI) using Illumina HiSeq sequencing technology. We will produce 100bp paired end reads. Variants will be called using the 1000 Genomes Project pipeline. The samples have been selected from a national representative set of approximately 30,300 samples and comprises 500 individuals of each gender in the extreme tail of high density lipoprotein (HDL) concentrations. Included individuals were between 25 and 65 years of age. Individuals with a diagnosis of diabetes or BMI>30 were excluded from the study. Illumina HiSeq 2000; 966 bam
EGAD00001001250 Low coverage (4-6x) sequencing on samples from population cohorts (Finrisk, Health2000) will be done at Wellcome Trust Sanger Institute (WTSI) using Illumina HiSeq sequencing technology. We will produce 100bp paired end reads. Variants will be called using the 1000 Genomes Project pipeline. The samples have been selected from a national representative set of 8028 samples from persons of 30 years or older, which were screened for psychotic and bipolar disorders using the Composite International Diagnostic Interview, self-reported diagnoses, medical examination, and national registers. Illumina HiSeq 2000; 731 bam
EGAD00001001249 WES of HCC by HiSeq 2000,total 71 samples including Hepatocellular carcinoma cell lines and nornal sample(Peripheral Blood or the adjacent tissues of cancer) Illumina HiSeq 2000; 71 fastq
EGAD00001001248 DATA FILES FOR PCGP SJETP WXS Illumina HiSeq 2000; 13 bam
EGAD00001001247 DATA FILES FOR PCGP SJMEL RNASEQ Illumina HiSeq 2000; 7 bam
EGAD00001001246 DATA FILES FOR PCGP SJMEL WXS Illumina HiSeq 2000; 28 bam
EGAD00001001245 DATA FILES FOR PCGP SJINF WES Illumina HiSeq 2000; 40 bam
EGAD00001001244 RNA-sequencing (RNA-seq) was performed with RNA extracted from fresh-frozen human tumor tissue samples. cDNA libraries were prepared from poly-A selected RNA applying the Illumina TruSeq protocol for mRNA. The libraries were then sequenced with a 2 x 100bp paired-end protocol to a minimum mean coverage of 30x of the annotated transcriptome. Illumina HiSeq 2000; 58 fastq
EGAD00001001243 Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci. Illumina HiSeq 2000; 9 bam,fastq
EGAD00001001242 Pilot study to set up sequencing protocols for targeted pulldown methylation profiling Illumina MiSeq; 2 cram
EGAD00001001240 VCF files of somatic variants from tumor-normal pairs of Asian lung cancer patients 30 vcf
EGAD00001001239 Extension analysis to pursue candidate genes of interest in chordoma Illumina HiSeq 2000; 262 cram
EGAD00001001238 Extension analysis to pursue candidate genes of interest in chordoma Illumina HiSeq 2000; 262 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
EGAD00001001236 Targetted capture and resequencing of 94 known myeloid genes across MPN trials (PT1 and Voriconazole study) and other MPN samples. Illumina HiSeq 2000; 1,860 cram
EGAD00001001235 ChIP-Seq (Input) 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. 48 bam
EGAD00001001234 ChIP-Seq (H3K9me3) 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. Illumina HiSeq 2000; 48 bam
EGAD00001001233 ChIP-Seq (H3K4me3) 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. Illumina HiSeq 2000; 48 bam
EGAD00001001232 ChIP-Seq (H3K4me1) 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. Illumina HiSeq 2000; 48 bam
EGAD00001001231 ChIP-Seq (H3K36me3) 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. Illumina HiSeq 2000; 48 bam
EGAD00001001230 ChIP-Seq (H3K27me3) 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. Illumina HiSeq 2000; 48 bam
EGAD00001001229 ChIP-Seq (H3K27ac) 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. Illumina HiSeq 2000; 48 bam
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
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
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
EGAD00001001222 TGCT Whole Exome Sequencing data Illumina HiSeq 2500; 84 bam
EGAD00001001221 Illumina HiSeq 2500; 54 fastq
EGAD00001001220 Illumina HiSeq 1000; 10 bam
EGAD00001001218 10 bam
EGAD00001001217 15 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
EGAD00001001215 Targeted sequencing follow-up of genomic lesions in multiple myeloma. Illumina HiSeq 2000; 424 cram
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
EGAD00001001213 Illumina HiSeq 2000; 88 bam
EGAD00001001212 RNAseq profile of purified plasma cells from multiple myeloma patients and tonsils of healthy donors Illumina HiSeq 2000; 15 fastq
EGAD00001001210 Altered translation response to stress by medulloblastoma-associated DDX3X mutations 28 bam
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
EGAD00001001126 340 other
EGAD00001001125 Exome sequencing of Untreated BCC samples. Illumina HiSeq 2000; 91 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
EGAD00001001123 Deep sequencing of two skin biopsies to study the landscape of somatic mutations in human adult tissues. Illumina HiSeq 2000; 2 cram
EGAD00001001122 FFPE normal panel generation for use with V3 cancer panel 0618521 Illumina HiSeq 2000; 94 cram
EGAD00001001121 RNA Sequencing Illumina HiSeq 2000; 26 fastq
EGAD00001001120 Whole Genome Sequencing Illumina HiSeq 2000;, Illumina HiSeq 2500; 64 fastq
EGAD00001001119 Whole Genome Bisulfite Sequencing Illumina HiSeq 2000;, Illumina HiSeq 2500; 26 fastq
EGAD00001001118 Gastric Cancer (GC) is a highly heterogeneous disease. To identify potential clinically actionable therapeutic targets that may inform individualized treatment strategies, we performed whole-exome sequencing on 78 GCs of differing histologies and anatomic locations, as well as whole-genome sequencing on two GC cases, each with 3 primary tumours and 2 matching lymph node metastases. The data showed two distinct GC subtypes with either high-clonality (HiC) or low-clonality (LoC). Illumina HiSeq 2000; 168 fastq
EGAD00001001116 We propose to definitively characterise the somatic genetics of Prostate cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing. See ICGC website for more information: http://icgc.org/icgc/cgp/70/508/71331 Illumina HiSeq 2000; 190 bam
EGAD00001001115 Illumina HiSeq 2500; 54 fastq
EGAD00001001114 DDD DATAFREEZE 2013-12-18: 1133 trios - exome sequence BAM files (Ref: DDD Nature 2015) 3,335 bam,tab
EGAD00001001113 Illumina HiSeq 2000; 46 bam
EGAD00001001108 MMP-seq tumor samples (FASTQ) Illumina Genome Analyzer IIx; 218 fastq
EGAD00001001107 MMP-seq cell lines (FASTQ) Illumina Genome Analyzer IIx; 154 fastq
EGAD00001001105 Whole-exome sequencing in 16 RMS cases Whole-transcriptome sequencing in 8 RMS cases Illumina HiSeq 2000; 38 bam
EGAD00001001104 MMP-seq tumor samples, UDG treated (FASTQ) Illumina MiSeq; 16 fastq
EGAD00001001098 DATA FILES FOR SJINF RNASeq Illumina HiSeq 2000; 63 bam
EGAD00001001096 Illumina HiSeq 2000; 419 bam
EGAD00001001095 Illumina HiSeq 2000;, Illumina HiSeq 2500; 508 bam,fastq
EGAD00001001094 Illumina HiSeq 2500; 247 fastq
EGAD00001001093 Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing Illumina HiSeq 2000; 2
EGAD00001001092 Approximately 80% of clinically clearly diagnosed patients suffering from primary ciliary dyskinesia (PCD) cannot be assigned to a specific gene defect. Despite extensive research on PCD and despite the increasing number of PCD genes and knowledge about their sites of action as e.g structural component or cytoplasmic pre-assembly factor, the biology of motile cilia and the pathomechanism leading to PCD is largely unknown. The aim of this study is to identify novel PCD related genes and processes relevant for motile cilia function. We will perform exome sequencing, aiming on the analysis of family trios. In these families, the diagnosis of PCD is secured, but the underlying gene defects has so far not been identified. Illumina HiSeq 2000; 150 cram
EGAD00001001091 We established and validated a sequence capture based NGS testing approach for PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing of PKD1 variants challenging. In the publication accompaying this dataset (An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease, Eisenberger et.al., PLoS one), we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. This dataset contains the raw PKD1 reads of all patients from the publication. Illumina HiSeq 1500; 55 fastq
EGAD00001001090 This study aims to define the landscape of somatic mutations in sun exposed human skin by deep sequencing, analyse their frequency and use the data to infer the effect of mutations on proliferating cell behaviour. The frequency of each mutation will reflect the size of the clone of cells in the tissue sample. By analyzing small samples, clones with as few as 100 cells will be detectable. Allele frequency distributions for each mutation will be used to infer cell fate using published methods (Klein et al. 2010). This study will shed unprecedented light on the early clonal events that lead to the emergence of cancer. Illumina HiSeq 2000; 166 bam,cram
EGAD00001001089 RNAseq BAM files for the Fat samples of the EUROBATS project 685 bai,bam
EGAD00001001088 RNAseq BAM files for the blood samples of the EUROBATS project 391 bai,bam
EGAD00001001087 RNAseq BAM files for the Skin samples of the EUROBATS project. 672 bai,bam
EGAD00001001086 These analysis are the BAM files for the LCLs samples of the EUROBATS samples. 765 bai,bam
EGAD00001001085 This dataset includes 2 pairs of tumour/normal whole genome sequence data as well as MEN1 gene targeted sequencing of an additional 87 specimens. Illumina MiSeq;, Illumina HiSeq 2500; 91 bam
EGAD00001001084 Illumina HiSeq 2000; 209 fastq
EGAD00001001083 Illumina HiSeq 2000; 2 fastq
EGAD00001001081 Healthy reference samples 3 bam
EGAD00001001080 MDS patients 5 bam
EGAD00001001079 The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of a sample of these individuals has the potential both to support genetic health programmes in these populations, and to provide genetic research information about rare loss of function mutations. This pilot study based on existing cohort samples from the Born In Bradford study will identify homozygous individuals for almost all variants down to an allele frequency around 1%, plus individuals carrying hundreds of new homozygous rare loss-of-function variants, and will support development of community relations and ethics for a wider study currently being designed. The data deposited in the EGA consist of low coverage whole exome sequencing on these samples.Data Access is controlled by the Wellcome Trust Sanger Institute DAC and the Born In Bradford Executive Group. Illumina HiSeq 2000; 2,702 vcf
EGAD00001001076 Fastq files of 239 samples of biliary tract cancer Illumina HiSeq 2000; 239 fastq
EGAD00001001075 miRNA-seq Cohort of 15 Benign Centroblasts 15 bam
EGAD00001001074 miRNA-seq Cohort of 92 Fresh Frozen Diffuse Large B-cell Lymphoma Patient Samples 92 bam
EGAD00001001073 miRNA-seq Cohort of 140 Formalin Fixed Paraffin Embedded Diffuse Large B-cell Lymphoma Patient Samples 140 bam
EGAD00001001072 Illumina MiSeq; 5 fastq
EGAD00001001071 Samples from the "100" project that are in the ICGC PanCancer project. Illumina HiSeq 2000; 200 bam
EGAD00001001070 Illumina HiSeq 2000; 1 bam
EGAD00001001069 Illumina HiSeq 2000; 1
EGAD00001001068 Illumina HiSeq 2000; 1 bam
EGAD00001001066 Dynamics of genomic clones in breast cancer patient xenografts at single cell resolution Illumina MiSeq;, Illumina HiSeq 2000; 188 bam
EGAD00001001064 Extension of angiosarcoma whole genome sequencing study Illumina MiSeq; 4 cram
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
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
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
EGAD00001001060 Illumina HiSeq 2000; 112 bam
EGAD00001001059 DATA FILES FOR SJRHB-WES Illumina HiS