What are Studies

Studies are experimental investigations of a particular phenomenon or trait.

Total number of Studies: 801
Displaying 1 - 801

Study ID Title Typesort descending
phs000327.v1.p1 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (Siblings with Ischemic Stroke Study, SWISS) Affected Sib Pairs; Exome Sequencing
phs000501.v1.p1 Compilation of Aggregate Genomic Data for General Research Use Aggregate Genomic Data
phs000205.v4.p2 International Standards for Cytogenomic Arrays Array Comparative Genomic Hybridization
EGAS00001000179 Renal Matched Pair Cell Line Exome Sequencing Cancer Genomics
EGAS00001000195 Breast Cancer Somatic Genetics Study Cancer Genomics
EGAS00001000088 Familial Thrombocytosis germline exome sequencing Cancer Genomics
EGAS00001000206 Cancer Exome Resequencing Cancer Genomics
EGAS00001000200 Acute Lymphoblastic Leukemia Exome sequencing 2 Cancer Genomics
EGAS00001000011 CLL cancer Sample Sequencing Cancer Genomics
EGAS00001000209 Acute Myeloid Leukemia Sequencing Cancer Genomics
EGAS00001000139 Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing Cancer Genomics
EGAS00001000201 Acute Lymphoblastic Leukemia Exome sequencing Cancer Genomics
EGAS00001000027 TMD AMLK Exome Study Cancer Genomics
EGAS00001000037 Gastric and Esophageal tumour rearrangement screen Cancer Genomics
EGAS00001000288 Genentech Colon Cancer Screen Cancer Genomics
EGAS00001000218 CML Discovery Project Cancer Genomics
EGAS00001000383 The genomic landscape of large and small tumors in early-onset prostate cancer patients Cancer Genomics
EGAS00001000135 Recurrent somatic DICER1 mutations in non-epithelial ovarian tumors Cancer Genomics
EGAS00001000161 Triple Negative Breast Cancer sequencing Cancer Genomics
EGAS00001000033 1 Fanconi Anemia transformation to AML Cancer Genomics
EGAS00001000092 Triple Negative Breast Cancer Whole Genomes Cancer Genomics
EGAS00000000092 CLL Genome Cancer Genomics
EGAS00001000245 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome Cancer Genomics
EGAS00001000420 Breast Cancer FRT RNA seq Cancer Genomics
EGAS00001000198 Myeloproliferative Disorder Sequencing Cancer Genomics
EGAS00001000334 Genentech Small Cell Lung Cancer (SCLC) Screen Cancer Genomics
EGAS00001000176 FRCC Exome sequencing Cancer Genomics
EGAS00001000193 ADCC Exome Sequencing Cancer Genomics
EGAS00001000087 Burden of Disease in Sarcoma Cancer Genomics
EGAS00001000188 Chordoma Exome Sequencing Cancer Genomics
EGAS00001000160 Matched Pair Cancer Cell line Whole Genomes Cancer Genomics
EGAS00001000006 Renal Cancer Exome Sequencing Cancer Genomics
EGAS00001000273 Stratifying and Targeting Pediatric Medulloblastoma through Genomics Cancer Genomics
EGAS00001000166 Breast Cancer Matched Pair Cell Line Whole Genomes Cancer Genomics
EGAS00001000211 Breast Cancer Exome Sequencing Cancer Genomics
EGAS00001000148 Lung Cancer Whole Genomes Cancer Genomics
EGAS00001000202 Glioma cell lines rearrangement screen Cancer Genomics
EGAS00001000226 Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma Cancer Genomics
EGAS00001000191 CML blast phase rearrangement screen Cancer Genomics
EGAS00001000005 Lung Rearrangement Study Cancer Genomics
EGAS00001000003 Cancer Single Cell Sequencing Cancer Genomics
EGAS00001000102 ET Exome Cancer Genomics
EGAS00001000028 PV Exome Study Cancer Genomics
EGAS00001000038 Chondrosarcoma Exome Cancer Genomics
EGAS00001000207 Breast Cancer Exome Resequencing Cancer Genomics
EGAS00001000103 Genomics of Colorectal Cancer Metastases Massively Parallel Sequencing of Matched Primary and Metastatic tumours to Identify a Metastatic Signature of Somatic Mutations MOSAIC Cancer Genomics
EGAS00001000205 Non Tumour Renal Cell Line Sequencing Cancer Genomics
EGAS00001000163 Osteosarcoma Exome Sequencing Cancer Genomics
EGAS00001000082 ALK inhibitors in the context of ALK dependent cancer cell lines Cancer Genomics
EGAS00001000014 CLL Cancer Whole Genome Sequencing Cancer Genomics
EGAS00001000175 PMF Exome Study Cancer Genomics
EGAS00001000337 Inferring tumor genomes from peripheral blood i.e. CTCs and plasma-DNA using deep sequencing and targeted enrichment Cancer Genomics
EGAS00001000081 CRLF2 sequencing project Exomes Cancer Genomics
EGAS00001000012 Various Cancer Fusion Gene Sequencing Cancer Genomics
EGAS00001000004 Multifocal Breast Project Cancer Genomics
EGAS00001000089 Myelodysplastic Syndrome Exome Sequnecing Cancer Genomics
EGAS00001000095 Renal Follow Up Series Cancer Genomics
EGAS00001000036 Integrative Oncogenomics of Multiple Myeloma Cancer Genomics
EGAS00001000154 Genome Landscape of Primary Pancreatic Ductal Adenocarcinoma Cancer Genomics
EGAS00001000042 HER2 positive Breast Cancer Cancer Genomics
EGAS00001000196 SCAT osteosarcoma sequencing Cancer Genomics
EGAS00001000394 Genome wide mutation analysis of germinal-center B-cell derived lymphomas within the ICGC MMML-Seq Consortium Cancer Genomics
EGAS00001000178 Cell Line Sub Clone Rearrangement Screen Cancer Genomics
EGAS00001000031 Matched breast cancer fusion gene study Cancer Genomics
EGAS00001000140 Xenograft Sequencing Cancer Genomics
EGAS00001000030 ADCC Rearrangement Screen Cancer Genomics
EGAS00001000002 Breast Cancer Follow Up Series Cancer Genomics
EGAS00001000370 Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single nucleotide variants and tumoral heterogeneity by massively parallel sequencing Cancer Genomics
EGAS00001000199 Myeloproliferative Disorder Sequencing Cancer Genomics
EGAS00001000080 CRLF2 sequencing project Cancer Genomics
EGAS00001000210 Breast Cancer Whole Genome Sequencing Cancer Genomics
EGAS00001000013 Osteosarcoma Sequencing Cancer Genomics
EGAS00001000220 Identifying Novel Fusion Genes in Myeloma Cancer Genomics
EGAS00001000094 PREDICT Cancer Genomics
EGAS00001000177 Meningioma Exome Cancer Genomics
EGAS00001000180 Mixed Leukemia Rearrangement Screen Cancer Genomics
EGAS00000000059 Assessment of genomic copy number alterations in breast cancer Cancer Genomics
EGAS00001000032 Kaposi sarcoma exome Cancer Genomics
EGAS00001000058 Acute Lymphoblastic Leukemia Sequencing Cancer Genomics
EGAS00001000197 ER HER2 PR breast Cancer genome sequencing Cancer Genomics
EGAS00001000170 20 Matched Pair Breast Cancer Genomes Cancer Genomics
EGAS00001000147 Osteosarcoma Whole Genome Cancer Genomics
EGAS00001000034 MDSMPN Rearrangement Screen Cancer Genomics
EGAS00001000169 Whole genome sequencing of matched primary and metastatic acral melanomas Cancer Genomics
EGAS00001000155 Matched Ovarian Cancer Sequencing Cancer Genomics
EGAS00001000466 FFPE CPA Accreditation Study Cancer Genomics
EGAS00001000261 Transcriptome Sequencing of Cancer Cell Lines Cancer Genomics
EGAS00001000278 Osteosarcoma Targeted Sequencing Study Cancer Genomics
EGAS00001000289 Lung Plasma rearrangement screen Cancer Genomics
EGAS00001000362 Ewings Sarcoma Rearrangement Screen Cancer Genomics
EGAS00001000360 Balanced Brain Tumour Whole Genome Sequencing Cancer Genomics
EGAS00001000427 Prostate Cancer Whole Genome Validations Cancer Genomics
EGAS00001000282 Meningioma Targeted Sequencing Study Cancer Genomics
EGAS00001000569 TMD AMKL targeted follow up Cancer Genomics
EGAS00001000426 Triple Negative Breast Cancer Whole Genome Validations Cancer Genomics
EGAS00001000596 Breast Cancer Sequential Sampling Targeted Capture Cancer Genomics
EGAS00001000408 Targeted sequencing of genes recurrently mutated in AML Cancer Genomics
EGAS00001000390 Targeted gene fusion sequencing Fus seq in mesothelioma Cancer Genomics
EGAS00001000173 Testing the feasibility of genome scale sequencing in routinely collected FFPE cancer specimens versus matched fresh frozen samples Cancer Genomics
EGAS00001000292 Molecular characterization of invasive lobular carcinoma Cancer Genomics
EGAS00001000501 Bone Cancer Rare Types Whole Genome Cancer Genomics
EGAS00001000403 BASIS Genome Validation Study Cancer Genomics
EGAS00001000297 Feasibility of targeted capture sequencing in routinely collected FFPE cancer specimens Cancer Genomics
EGAS00001000291 Myelodysplastic syndrome whole genomes Cancer Genomics
EGAS00001000280 Chordoma Targeted Sequencing Study Cancer Genomics
EGAS00001000354 Primary Lung Cancer whole genome study Cancer Genomics
EGAS00001000174 Balanced Ependymoma Cancer Genomics
EGAS00001000262 ICGC Prostate Cancer Whole Genome Sequencing Cancer Genomics
EGAS00001000290 Myeloproliferative Disease Whole Genomes Cancer Genomics
EGAS00001000214 Test of PCR library method on whole genmoe samples Cancer Genomics
EGAS00001000275 AML targeted resequencing study Cancer Genomics
EGAS00001000293 Evaluation of size selection on cancer specific sequencing libraries Cancer Genomics
EGAS00001000181 Chondrosarcoma Validation Study Cancer Genomics
EGAS00001000300 Breast cancer sequential sampling study Cancer Genomics
EGAS00001000332 Helleday HRAS Project Cancer Genomics
EGAS00001000404 Myeloproliferative Neoplasms MPN Exome Validation Study Cancer Genomics
EGAS00001000405 Angiosarcoma follow up study Cancer Genomics
EGAS00001000224 Myelodysplastic Syndrome Follow Up Series Cancer Genomics
EGAS00001000406 Myeloproliferative Neoplasms MPN Targeted Gene Screen Cancer Genomics
EGAS00001000233 Pulldown cytosine deaminases Cancer Genomics
EGAS00001000428 Neoadjuvant Breast Cancer Validations Cancer Genomics
EGAS00001000330 Osteosarcoma whole genome rearrangement screen Cancer Genomics
EGAS00001000165 Monotherapy Breast Cancer Cancer Genomics
EGAS00001000353 The genomic architecture of mesothelioma Cancer Genomics
EGAS00001000277 Chondrosarcoma Targeted Sequencing Study Cancer Genomics
EGAS00001000374 Deep RNA sequencing in CLL Cancer Genomics
EGAS00001000138 Radiotherapy induced sarcoma Cancer Genomics
EGAS00001000570 Targeted sequencing of genes recurrently mutated in AML part2 Cancer Genomics
EGAS00001000400 Integrative genomic analyses reveal androgen-driven somatic alteration landscape in early-onset prostate cancer Cancer Genomics
EGAS00001000369 Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma Cancer Genomics
EGAS00001000509 an integrated molecular study of clear cell renal cell carcinoma (ccRCC) including whole-genome/exome and RNA sequencing as well as array-based gene expression/copy-number/methylation analyses Cancer Genomics
EGAS00001000250 Poikiloderma syndrome RNAseq Cancer Genomics
EGAS00001000419 Ewings Sarcoma RNA seq drug sensitivity Cancer Genomics
EGAS00001000518 Angiosarcoma follow up 2 validation study Cancer Genomics
EGAS00001000410 Chordoma Sequencing Project RNAseq Cancer Genomics
EGAS00001000267 RNAseq of patients with Ewings sarcoma Cancer Genomics
EGAS00001000377 Triple Negative Breast Cancer RNA Sequencing Cancer Genomics
EGAS00001000251 Melanoma Til Study RNAseq Cancer Genomics
EGAS00001000434 Matched Pair Cell Line Tumour RNAseq Cancer Genomics
EGAS00001000249 Genomic Alterations in Gingivo-buccal Cancer: ICGC-India Project Cancer Genomics
EGAS00001000083 CAGEKID: Cancer Genomics of the Kidney Cancer Genomics
EGAS00001000590 Angiosarcoma RNA sequencing Cancer Genomics
EGAS00001000310 RNA sequencing Cancer Genomics
EGAS00001000588 Angiosarcoma whole exome Cancer Genomics
EGAS00001000606 Pseudogene RNAseq Cancer Genomics
EGAS00001000587 Epi Tax targeted sequencing Cancer Genomics
phs000422.v1.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma): Genetic variants affecting susceptibility and severity Case Set
phs000550.v1.p1 Genome-Wide Characterization of Pancreatic Adenocarcinoma Patients Using Next Generation Sequencing Case Set
phs000005.v1.p1 The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Cerebrovascular Disease/Stroke Study Case Set
phs000359.v1.p1 Exome sequencing and disease analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Case Set
phs000565.v1.p1 Copy Number Variation in Congenital Kidney Malformations Case Set
phs000504.v1.p1 Genomic Sequencing of Medulloblastoma Case Set
phs000447.v1.p1 Prostate Cancer Genome Sequencing Project Case Set
phs000380.v1.p1 eMERGE Genome-Wide Association Studies of Obesity (Metabochip) Case Set
phs000288.v1.p1 Ciliopathies Exome Sequencing Initiative Case Set
phs000568.v1.p1 Genomic Sequencing of Solitary Fibrous Tumors Case Set
phs000516.v1.p1 Genome Sequencing of Pancreatic Ductal Adenocarcinoma at The Human Genome Sequencing Center of Baylor College of Medicine (HGSC-BCM) Case Set
phs000434.v1.p1 Next Generation Mendelian Genetics: Atypical Werner Syndrome Case Set
phs000552.v1.p1 Genomic Characterization of Meningiomas Case Set
phs000451.v1.p1 NHLBI and NIA The New England Centenarian Study (NECS) Case Set
phs000405.v1.p1 Next Generation Mendelian Genetics: Malignant Hyperthermia Case Set
phs000407.v1.p1 International Multi-Center ADHD Gene Project (IMAGE) II Case Sample Case Set
phs000003.v1.p1 National Institute of Neurological Disorders and Stroke (NINDS) Repository Parkinson's Disease Collection Case Set
phs000387.v1.p1 eMERGE Geisinger eGenomic Medicine (GeM) Abdominal Aortic Aneurysm Project (AAAP) Case Set
phs000539.v1.p1 Next Generation Mendelian Genetics: Congenital Hyperinsulinism Case Set
phs000188.v1.p1 Vanderbilt Genome-Electronic Records (VGER) Project: QRS Duration Case Set
phs000006.v1.p1 The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Motor Neuron/Amyotrophic Lateral Sclerosis (ALS) Study Case Set
phs000491.v1.p1 Whole-Genome and Exome Sequencing in clear-cell Renal Cell Carcinoma (ccRCC) Case Set
phs000567.v1.p1 Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing Case Set
phs000339.v1.p1 Targeted MitoExome Sequencing of Mitochondrial OXPHOS Diseases (Massachusetts General Hospital) Case Set
phs000508.v1.p1 Genomic Sequencing of Pediatric Rhaboid Cancers Case Set
phs000452.v1.p1 Melanoma Genome Sequencing Project Case Set
phs000522.v1.p1 Hyperdiploid Acute Lymphoblastic Leukemia RNA-Seq Case Set
phs000542.v1.p1 Next Generation Mendelian Genetics: Neonatal Diabetes Case Set
phs000385.v1.p1 Epigenetic Profiling of Human Colorectal Cancer Case Set
phs000602.v1.p1 Identification of Targetable FGFR Gene Fusions in Diverse Cancers Case Set
phs000488.v1.p1 Genomic Sequencing of Lung Adenocarcinoma Case Set
phs000180.v2.p2 Type 1 Diabetes Genetics Consortium (T1DGC): Genome-Wide Association Study in Type 1 Diabetes, 2008 Case Set
phs000384.v1.p1 Genentech whole genome and transcriptome sequencing of four hepatocellular carcinoma patients Case Set
phs000408.v1.p1 eMERGE Genome-Wide Association Studies of Obesity Case Set
phs000581.v1.p1 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy) Case Set
phs000549.v1.p1 Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia Case Set
phs000646.v1.p1 Breakpoint detection using long insert whole genome sequencing Case Set
phs000614.v1.p1 Genomic Analysis of Pediatric Low Grade Gliomas Case Set
phs000563.v1.p1 The genomics of pilocytic astrocytoma formation in neurofibromatosis type 1 Case Set
phs000623.v1.p1 Rare Mendelian Disease in Old Order Amish and Mennonite Patients Case Set
phs000393.v1.p1 deCODE Genetics study on genes contributing to nicotine dependence in humans Case Set; Case-Control
phs000413.v1.p1 Whole Genome Sequencing of Pediatric Acute Megakaryoblastic Leukemia Case Set; Cohort; Tumor vs. Matched-Normal
phs000490.v1.p1 A Study of the Genetic Causes of Complex Pediatric Disorders Case Set; Control Set
phs000541.v1.p1 Next Generation Mendelian Genetics: Muscle Hypertrophy Case Set; Family
phs000094.v1.p1 International Consortium to Identify Genes and Interactions Controlling Oral Clefts Case Set; Parent-Offspring Trios
phs000564.v1.p1 Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units Case Set; Parent-Offspring Trios
phs000450.v1.p1 Whole Exome Sequencing of Diffuse Large B-Cell Lymphoma Case Set; Tumor
phs000435.v1.p1 Whole Exome Sequencing of Chronic Lymphocytic Leukemia Case Set; Tumor vs. Matched-Normal
phs000598.v1.p1 Exome Sequencing of Esophageal Adenocarcinoma Case Set; Tumor vs. Matched-Normal
phs000579.v1.p1 Small Intestine Neuroendocrine Tumors (Carcinoid Tumors) Case Set; Tumor vs. Matched-Normal
phs000369.v1.p1 Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes Case Set; Tumor vs. Matched-Normal; Exome Sequencing
phs000370.v1.p1 The Mutational Landscape of Head and Neck Squamous Cell Carcinoma Case Set; Tumor vs. Matched-Normal; Exome Sequencing
phs000671.v1.p1 Somatic Mutations in Variant and IGHV4-34 Expressing Hairy Cell Leukemia Case Set; Tumor vs. Matched-Normal; Exome Sequencing
phs000374.v1.p1 Whole Genomic Sequencing of Nine Primary Colorectal Adenocarcinoma Tumor/Germline Pairs Case Set; Tumor vs. Matched-Normal; Whole Genome Sequencing
phs000414.v1.p1 Whole genome sequencing of core-binding factor leukemia Case Set; Tumor vs. Matched-Normal; Whole Genome Sequencing
phs000352.v1.p1 The genomic complexity of sporadic and inherited retinoblastoma with a matched orthotopic xenograft Case Set; Tumor vs. Matched-Normal; Whole Genome Sequencing; Xenograft
phs000341.v1.p1 Genome-Wide Analysis of Hypodiploid Acute Lymphoblastic Leukemia Case Set; Tumor vs. Matched-Normal; Xenograft
phs000409.v1.p1 The Genomic Analysis of Medulloblastoma Case Set; Whole Genome Sequencing; Tumor vs. Matched-Normal
phs000090.v1.p1 The Atherosclerosis Risk in Communities (ARIC) Study Case-Cohort
phs000280.v1.p1 NHLBI Atherosclerosis Risk in Communities (ARIC) Candidate Gene Association Resource (CARe) Case-Cohort
phs000401.v1.p1 National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS) Case-Cohort; Case-Control; Cohort; Affected Sib Pairs; Exome Sequencing
phs000398.v1.p1 National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (ARIC) Case-Cohort; Case-Control; Cohort; Affected Sib Pairs; Exome Sequencing
phs000400.v1.p1 National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (CHS) Case-Cohort; Case-Control; Cohort; Affected Sib Pairs; Exome Sequencing
phs000402.v1.p1 National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (JHS) Case-Cohort; Case-Control; Cohort; Affected Sib Pairs; Exome Sequencing
phs000431.v1.p1 IgA Nephropathy GWAS (IGANGWAS) Case-Control
phs000263.v1.p1 Metagenomic study of the human skin microbiome associated with acne Case-Control
phs000170.v1.p1 A Genome-Wide Association Study on Cataract and HDL in the Personalized Medicine Research Project Cohort Case-Control
phs000018.v1.p1 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN Case-Control
phs000255.v1.p1 Effect of Crohn's Disease Risk Alleles on Enteric Microbiota Case-Control
phs000102.v1.p1 Ischemic Stroke Genetics Study (ISGS) Case-Control
phs000219.v1.p1 Multi-Site Collaborative Study for Genotype-Phenotype Associations in Alzheimer's disease and Longitudinal follow-up of Genotype-Phenotype Associations in Alzheimer's disease and Neuroimaging component of Genotype-Phenotype Associations in Alzheimer's disease Case-Control
phs000289.v2.p1 National Human Genome Research Institute (NHGRI) GENEVA Genome-Wide Association Study of Venous Thrombosis (GWAS of VTE) Case-Control
phs000247.v2.p2 The Neonatal Microbiome and Necrotizing Enterocolitis Case-Control
phs000331.v1.p1 A Genome-Wide Association Study in Patients Experiencing Drug-Induced Long-QT Syndrome and/or Torsades de Pointes; A Collaboration Between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Institute Center for Genomic Medicine Case-Control
phs000274.v1.p1 Genome-Wide Association Study of Celiac Disease Case-Control
phs000297.v1.p1 eMERGE Network Study of the Genetic Determinants of Resistant Hypertension Case-Control
phs000573.v1.p1 Genetic Heterogeneity of Diffuse Large B Cell Lymphoma Case-Control
phs000100.v3.p1 The Finland-United States Investigation of NIDDM Genetics (FUSION) Study Case-Control
phs000383.v1.p1 Genome-Wide Association Study of Breast Cancer in the African Diaspora - the ROOT study Case-Control
phs000125.v1.p1 CIDR: Collaborative Study on the Genetics of Alcoholism Case Control Study Case-Control
phs000048.v1.p1 Mayo-Perlegen LEAPS (Linked Efforts to Accelerate Parkinson's Solutions) Collaboration Case-Control
phs000020.v2.p1 Major Depression: Stage 1 Genomewide Association in Population-Based Samples Case-Control
phs000507.v1.p1 NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (age >45 yrs old) from the REGARDS Case-Control
phs000171.v1.p1 A Case-Controlled Study for Genotype-Phenotype Associations in Multiple Sclerosis (MS) Case-Control
phs000423.v1.p1 Genome wide association study for early onset coronary disease and related phenotypes (ADVANCE) Case-Control
phs000021.v3.p2 Genome-Wide Association Study of Schizophrenia Case-Control
phs000308.v1.p1 The Primary Open-Angle Glaucoma Genes and Environment (GLAUGEN) Study Case-Control
phs000272.v1.p1 National Institute of Arthritis and Musculoskeletal and Skin Diseases and Istanbul Faculty of Medicine Genome wide Association Study of Behçet's Disease (Turkish) Case-Control
phs000536.v1.p1 Somatic L1 Retrotransposition in Colorectal Tumors Case-Control
phs000445.v1.p1 Genome Variation among HIV-Resistant People with Hemophilia Case-Control
phs000517.v1.p1 GWAS in African Americans, Latinos and Japanese Case-Control
phs000294.v1.p1 STAMPEED: Myocardial Infarction Genetics Consortium (MIGen) Case-Control
phs000124.v2.p1 Neuroblastoma Genome-Wide Association Study (NBL-GWAS) Case-Control
phs000265.v3.p1 The Human Gut Microbiome and Recurrent Abdominal Pain in Children Case-Control
phs000140.v1.p1 A Whole Genome Association Search for Type 2 Diabetes Genes in African Americans Case-Control
phs000167.v1.p1 Molecular Genetics of Schizophrenia - nonGAIN Sample (MGS nonGAIN) Case-Control
phs000126.v1.p1 CIDR: Genome Wide Association Study in Familial Parkinson Disease (PD) Case-Control
phs000216.v1.p1 International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN) Case-Control
phs000368.v1.p1 Polycystic Ovary Syndrome (PCOS) Genetics Case-Control
phs000502.v1.p1 Genome-Wide Analysis of Splenic Marginal Zone Lymphoma Case-Control
phs000001.v3.p1 National Eye Institute (NEI) Age-Related Eye Disease Study (AREDS) Case-Control
phs000234.v1.p1 Development and Use of Network Infrastructure for High-Throughput GWA Studies Case-Control
phs000389.v1.p1 GEnetics of Nephropathy - an International Effort (GENIE) GWAS of Diabetic Nephropathy in the UK GoKinD and All-Ireland Cohorts Case-Control
phs000143.v1.p1 Starr County Health Studies' Genetics of Diabetes Study Case-Control
phs000089.v3.p2 NINDS-Genome-Wide Genotyping in Parkinson's Disease: First Stage Analysis and Public Release of Data Case-Control
phs000302.v1.p1 Genetic Study on Nephropathy in Type-2 Diabetes Case-Control
phs000017.v3.p1 Whole Genome Association Study of Bipolar Disorder Case-Control
phs000237.v1.p1 Northwestern NUgene Project: Type 2 Diabetes Case-Control
phs000260.v2.p1 Foregut Microbiome in Development of Esophageal Adenocarcinoma Case-Control
phs000357.v1.p1 Genome-Wide Association Study in Systemic Sclerosis Case-Control
phs000147.v1.p1 Cancer Genetic Markers of Susceptibility (CGEMS) Breast Cancer Genome-Wide Association Study (GWAS) - Primary Scan (Stage 1) - Nurses' Health Study Case-Control
phs000439.v1.p1 A Genome-Wide Association Comparative Analysis of Response of AF Patients to Rate Control Therapy; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Institute Center for Genomic Medicine Case-Control
phs000202.v1.p1 OMRF SLEGEN GWAS Data from European-American Women with Lupus Case-Control
phs000292.v1.p1 Gene Environment Association Studies (GENEVA): Genetics of Early Onset Stroke (GEOS) Study Case-Control
phs000332.v1.p1 Genome-Wide Association Study of Preterm Birth Case-Control
phs000127.v2.p1 A Genome-Wide Association Study of Sporadic ALS in an Irish Population (SIALS) and Sequencing and Analysis of an Irish Human Genome Case-Control
phs000388.v1.p1 Charles R. Bronfman Institute for Personalized Medicine (IPM) BioBank Genome Wide Association Study of Cardiovascular, Renal and Metabolic Phenotypes Case-Control
phs000355.v1.p1 Genome Wide Association for Asthma and Lung Function Case-Control
phs000130.v1.p1 NIDDK IBD Genetics Consortium Crohn's Disease Genome-Wide Association Study Case-Control
phs000344.v1.p1 Genome-Wide Association Study of Amyotrophic Lateral Sclerosis in Finland Case-Control
phs000365.v1.p1 Exome Sequencing for Diseases of the Immune System: X-linked Immunodeficiency with Magnesium Defect, EBV Infection, and Neoplasia (XMEN) Case-Control
phs000275.v1.p1 Brigham and Women's Hospital Multiple Sclerosis Genetic Collection Case-Control
phs000333.v1.p1 Family Investigation of Nephropathy and Diabetes (FIND) Study Case-Control
phs000122.v1.p1 Whole Genome Association Study of Systemic Lupus Erythematosus Case-Control
phs000345.v1.p1 NIDDK IBD Genetics Consortium Ulcerative Colitis Genome-Wide Association Study Case-Control
phs000298.v1.p1 ARRA Autism Sequencing Collaboration Case-Control
phs000088.v1.p1 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK Case-Control
phs000353.v1.p1 Genome-Wide Association Studies of Prematurity and Its Complications (African American) Case-Control
phs000251.v1.p1 Human Microbiome Demonstration Project (UH2): Evaluation of the Cutaneous Microbiome in Psoriasis Case-Control
phs000182.v2.p1 Age related Macular Degeneration (AMD)-- Michigan, Mayo, AREDS, Pennsylvania (MMAP) Cohort Study: A Joint Genome Wide Association Study Case-Control
phs000203.v1.p1 A Genome-Wide Association Study of Peripheral Arterial Disease Case-Control
phs000019.v1.p1 Collaborative Association Study of Psoriasis Case-Control
phs000448.v1.p1 Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort Case-Control
phs000456.v1.p1 Risk Assessment of Cerebrovascular Events (RACE) Study Case-Control
phs000179.v2.p2 Genetic Epidemiology of COPD (COPDGene) Funded by the National Heart, Lung, and Blood Institute Case-Control
phs000196.v2.p1 Genome-Wide Association Study of Parkinson Disease: Genes and Environment Case-Control
phs000444.v1.p1 Italian Primary Biliary Cirrhosis Study Case-Control
phs000540.v1.p1 Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII Case-Control
phs000217.v1.p1 Genome wide association study of leprosy in Chinese population Case-Control
phs000092.v1.p1 Study of Addiction: Genetics and Environment (SAGE) Case-Control
phs000487.v1.p1 Functionally Active Copy Number Variants Associated with Prostate Cancer Risk Case-Control
phs000394.v1.p1 Autopsy-Confirmed Parkinson Disease GWAS Consortium (APDGC) Case-Control
phs000609.v1.p1 RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism Case-Control
phs000454.v1.p1 Genome-Wide Association Study of HIV-1 Host Genetics Among Injection Drug Users Case-Control
phs000277.v1.p1 A Genome-Wide Association Study of Heroin Dependence Case-Control
phs000618.v1.p1 Genome-Wide Association Study of Hypertriglyceridemia in Mexicans Case-Control
phs000473.v1.p1 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing Case-Control
phs000619.v1.p1 DNA Methylation Analysis of Peripheral Blood Cells from Siblings Discordant for ASD Case-Control
phs000546.v1.p1 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (Ischemic Stroke Genetic Study, ISGS) Case-Control
phs000659.v1.p1 Characterization of the Gut-Associated Microbiome in Inflammatory Pouch Complications Following Ileal Pouch-Anal Anastomosis Case-Control
phs000425.v1.p1 Alcohol Dependence GWAS in European- and African Americans Case-Control; Affected Sib Pairs
phs000101.v3.p1 NIH Genome-Wide Association Studies of Amyotrophic Lateral Sclerosis Case-Control; Case Set
phs000187.v1.p1 High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation Case-Control; Case Set
phs000404.v1.p1 The Genetic Architecture of Smoking and Smoking Cessation Case-Control; Case Set
phs000361.v1.p1 Genome-Wide Association Studies in Upper Gastrointestinal Cancers (Asian) Case-Control; Case Set; Cohort
phs000093.v2.p2 A Genome Wide Scan of Lung Cancer and Smoking Case-Control; Cohort
phs000346.v1.p1 Genome wide association study for Bladder Cancer Risk Case-Control; Cohort
phs000551.v1.p1 Gene Expression Signatures in CATHGEN Case-Control; Cohort
phs000336.v1.p1 A Genome-Wide Association Study of Lung Cancer Risk Case-Control; Cohort
phs000290.v1.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Pulmonary Arterial Hypertension) Case-Control; Exome Sequencing
phs000421.v1.p1 A Genome-Wide Association Study of Fuchs' Endothelial Corneal Dystrophy (FECD) Case-Control; Family
phs000433.v1.p1 The Sea Islands Genetic Network (SIGNET): Identifying genetic contributors to diabetes and dyslipidemia in African Americans Case-Control; Family
phs000556.v1.p1 NHLBI GO-ESP: Family Studies (JHMI-Molecular Genetics of Atypical Cystic Fibrosis (CF) Study) Case-Control; Family
phs000416.v1.p1 Genetics of Cerebral Hemorrhage with Anticoagulation (GOCHA) Case-Control; Longitudinal; Cohort
phs000239.v2.p1 Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis Case-Control; Monozygotic Twins
phs000224.v1.p1 VitGene Generalized Vitiligo Genetics Study Case-Control; Parent-Offspring Trios; Multiplex Families
phs000481.v1.p1 Cholesterol and Pharmacogenetics (CAP) Study Clinical Trial
phs000250.v1.p1 CALGB 80303:Genome-Wide Association Study of Advanced Pancreatic Cancer Patients - A Randomized Phase III trial of Gemcitabine Plus Bevacizumab versus Gemcitabine Plus Placebo in Patients with Advanced Pancreatic Cancer Clinical Trial
phs000240.v1.p1 National Eye Institute (NEI) Ocular Hypertension Treatment Study (OHTS) Clinical Trial
phs000621.v1.p1 Genome Wide Association Studies in ECOG 2903 Trial Clinical Trial
phs000086.v2.p1 Diabetes Control and Complications Trial (DCCT) and Epidemiology of Diabetes Interventions and Complications Study (EDIC) Clinical Trial; Longitudinal
phs000310.v1.p1 Discovery of Non-ETS Gene Fusions in Human Prostate Cancer using Next Generation RNA Sequencing Cohort
phs000311.v1.p1 FusionSeq: a modular framework for finding gene fusions by analyzing Paired-End RNA-Sequencing data Cohort
phs000303.v1.p1 Genetic Epidemiology of Refractive Error in the KORA (Kooperative Gesundheitsforschung in der Region Augsburg) Study Cohort
phs000518.v1.p1 NHLBI GO-ESP Family Studies: Idiopathic Bronchiectasis of unknown etiology that is not related to cystic fibrosis or classic primary ciliary dyskinesia or immune deficiency or any other known causes Cohort
phs000524.v1.p1 National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Chronic Renal Insufficiency Cohort Study (CRIC) Cohort
phs000390.v1.p1 Genomic Wide Scans for Female Osteoporosis Genes Cohort
phs000537.v1.p1 Next Generation Mendelian Genetics: Familial Hemophagocytic Lymphohistiocytosis Cohort
phs000218.v5.p1 National Cancer Institute (NCI) TARGET: Therapeutically Applicable Research to Generate Effective Treatments Cohort
phs000426.v1.p1 SLCO1B1 Variants and Methotrexate Clearance Cohort
phs000330.v1.p1 The Genomic Complexity of Primary Human Prostate Cancer Cohort
phs000513.v1.p1 Rearrangements of the MAST Kinase and Notch Gene Families in Breast Cancer Cohort
phs000535.v1.p1 Whole Genome and Exon Capture Sequencing of Bladder Cancers Cohort
phs000455.v1.p1 Molecular Genetic Studies of Developmental Brain Disorders Cohort
phs000286.v2.p1 NHLBI Jackson Heart Study Candidate Gene Association Resource (CARe) Cohort
phs000269.v1.p1 Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples Cohort
phs000494.v1.p1 Better Outcomes for Children: GWAS from Cincinnati Children's Hospital Medical Center (CCHMC) - eMERGE Phase II data - (dbGaP Deposit 1) Cohort
phs000443.v1.p1 Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progression Cohort
phs000525.v1.p1 Expressed Pseudogenes in the Transcriptional Landscape of Human Cancers Cohort
phs000371.v1.p1 Genetic Modifiers of Huntington's Disease Cohort
phs000362.v1.p1 NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation) Cohort
phs000548.v1.p1 Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin Cohort
phs000650.v1.p1 Pediatric Investigation of Genetic Factors Linked with Renal Progression (PediGFR): Chronic Kidney Disease in Children Cohort (CKiD) Cohort
phs000637.v1.p1 Methotrexate Clearance GWAS in Acute Lymphoblastic Leukemia (ALL) Patients Cohort
phs000351.v1.p1 National Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma Cohort; Case-Control
phs000206.v3.p2 Whole Genome Scan for Pancreatic Cancer Risk in the Pancreatic Cancer Cohort Consortium and Pancreatic Cancer Case-Control Consortium (PanScan) Cohort; Case-Control
phs000616.v1.p1 CIP: Obesity-Diabetes Familial Risk, Viva La Familia Study Cohort; Cross-Sectional; Longitudinal
phs000254.v1.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Cystic Fibrosis): Genetic modifiers of Pseudomonas aeruginosa (Pa) lung infection acquisition in cystic fibrosis Cohort; Exome Sequencing
phs000347.v1.p1 NHLBI GO-ESP: Family Studies (Thoracic aortic aneurysms leading to acute aortic dissections) Cohort; Exome Sequencing
phs000382.v1.p1 CIDR Whole Exome Sequencing in Joubert Syndrome Cohort; Family; Exome Sequencing
phs000220.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Multiethnic Cohort (MEC) Cohort; Nested Case-Control
phs000571.v1.p1 National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC) Cohort; Parent-Offspring Trios
phs000004.v1.p1 National Institute of Neurological Disorders and Stroke (NINDS) Repository Neurologically Normal Control Collection Control Set
phs000249.v1.p1 Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain Control Set
phs000449.v2.p1 Genetic Variation and Signatures of Natural Selection in Diverse Africans Control Set
phs000406.v1.p1 Spatiotemporal Transcriptome of the Human Brain Control Set
phs000199.v1.p1 Children's Hospital of Philadelphia (CHOP) Control Copy Number Variation (CNV) Study Control Set
phs000381.v1.p1 eMERGE Geisinger eGenomic Medicine (GeM) - MyCode Project Controls Control Set
phs000417.v2.p1 BrainCloud: Data from human postmortem brain procurement for the neuropathology section Control Set
phs000349.v1.p1 SNPs and Extent of Atherosclerosis (SEA) Study Cross-Sectional
phs000252.v2.p1 Diet, Genetic Factors, and the Gut Microbiome in Crohn's Disease Cross-Sectional; Controlled Trial; Longitudinal Cohort
phs000356.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE) Cross-Sectional; Longitudinal; Nested Case-Control
EGAS00001000075 Functional characterisation of CpG islands in human and mouse tissues Epigenetics
EGAS00001000076 Screening for abnormal CGI methylation in primary colorectal tumours Epigenetics
EGAS00001000074 Screening for human epigenetic variation at CpG islands Epigenetics
EGAS00001000272 Whole Genome Methylation in CLL Epigenetics
EGAS00001000490 Sequencing component for the whole genome methylation analysis in PBMCs and cell subsets pilot study Epigenetics
EGAS00001000449 The landscape of somatic mutations in epigenetic regulators across 1000 pediatric cancer genomes Epigenetics
EGAS00001000326 BLUEPRINT ChIP-seq data for cells in the haematopoietic lineages, from adult and cord blood samples. Epigenetics
EGAS00001000351 BLUEPRINT DNase accessibility (NCMLS) Epigenetics
EGAS00001000418 BLUEPRINT Bisulfite-seq (CNAG) Epigenetics
EGAS00001000414 Methylation analysis in GM01240 GM01247 Epigenetics
phs000225.v1.p1 A Population Genomics Study Using a Disease-Targeted Cell model: Integration of cis-eQTLs Discovered in Human Primary Osteoblasts with GWAS of Bone Phenotypes eQTL; Cohort
EGAS00001000016 The GENCODE exome sequencing the complete human exome Exome Sequencing
EGAS00001000124 UK10K OBESITY SCOOP Exome Sequencing
EGAS00001000129 UK10K RARE HYPERCHOL Exome Sequencing
EGAS00001000123 UK10K NEURO UKSCZ Exome Sequencing
EGAS00001000287 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability Exome Sequencing
EGAS00001000318 Whole-exome Sequencing Combined with Functional Genomics Reveals Novel Candidate Driver Cancer Genes in Endometrial Cancer Exome Sequencing
EGAS00001000217 Exome-sequencing identifies new oncogenes and tumor suppressor genes recurrently altered in hepatocellular carcinoma Exome Sequencing
EGAS00001000131 UK10K RARE THYROID Exome Sequencing
EGAS00001000017 Familial Melanoma Sequencing Exome Sequencing
EGAS00001000122 UK10K NEURO MUIR Exome Sequencing
EGAS00001000110 UK10K NEURO ASD FI Exome Sequencing
EGAS00001000153 Exome Sequencing of Gastric Cancer Exome Sequencing
EGAS00001000132 The clonal and mutational evolution spectrum of primary triple negative breast cancers Exome Sequencing
EGAS00001000149 Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency Exome Sequencing
EGAS00001000112 UK10K NEURO ASD GALLAGHER Exome Sequencing
EGAS00001000343 Pancreatic Cancer Sequencing Initiative Exome Sequencing
phs000295.v1.p1 Next Generation Mendelian Genetics: Kabuki Syndrome Exome Sequencing
phs000204.v1.p1 Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS) Exome Sequencing
EGAS00001000371 Whole-exome study to identify the causative germline mutations of congenital macrothrombocytopenia Exome Sequencing
EGAS00001000447 Germline Aberrations of PAX5 Cause Susceptibility to pre-B cell Acute Lymphoblastic Leukemia Exome Sequencing
EGAS00001000296 Exome sequencing identifies mutation of the ribosome in T-cell acute lymphoblastic leukemia Exome Sequencing
EGAS00001000579 Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma Exome Sequencing
phs000244.v1.p1 Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS) Exome Sequencing; Pedigree Whole Genome Sequencing
phs000392.v1.p1 Exome sequencing of autosomal recessive progressive external ophthalmoplegia (arPEO) Exome Sequencing; Single Patient
phs000364.v1.p1 High density copy number analysis and whole exome sequencing of chronic lymphocytic leukemia Exome Sequencing; Tumor vs. Matched-Normal
EGAS00000000134 NOWAC blood-based breast cancer case-control study Expression array/Phenotype
phs000538.v1.p1 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia Family
phs000582.v1.p1 NHLBI GO-ESP: Family Studies (Familial Interstitial Pneumonia) Family
phs000376.v1.p1 Whole Exome Sequencing in Familial Parkinson Disease Family
phs000268.v1.p1 Genotyping NIGMS CEPH Samples from the United States, Venezuela, and France Family
phs000367.v1.p1 NIDDK⁄CIDR Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease Family
phs000636.v1.p1 Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study Family
phs000601.v1.p1 Filtering and Annotation of Variants That Are Rare (FAVR) Family
phs000293.v1.p1 The Familial Intracranial Aneurysm Linkage Study (FIA) Family Linkage
phs000375.v1.p1 Genome-Wide Association of Native and Post Aspirin Platelet Function Phenotypes Family; Cohort
phs000160.v1.p1 National Institute on Aging (NIA) Late-Onset Alzheimer's Disease Genetics Initiative: The Multiplex Family Study Family; Control Set
phs000462.v1.p1 T2D-GENES Project 2: San Antonio Mexican American Family Studies Family; Longitudinal
phs000221.v1.p1 NHLBI Family Heart Study (FamHS-Visit1 and FamHS-Visit2) Family; Longitudinal
phs000168.v1.p1 National Institute on Aging - Late Onset Alzheimer's Disease Family Study: Genome-Wide Association Study for Susceptibility Loci Family; Longitudinal; Case-Control
phs000313.v3.p2 SardiNIA Medical Sequencing Discovery Project Family; Population
phs000338.v1.p1 National Institute on Aging (NIA) SardiNIA Study Family; Population
phs000419.v1.p1 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma Family; Whole Genome Sequencing
EGAS00000000074 Evolution of an adenomacarcinoma in response to selection by targeted kinase inhibitors Full Genome Sequencing
EGAS00000000075 ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas Full Transcriptome Sequencing
EGAS00000000048 A MITF germline mutation predisposes to melanoma and renal cell carcinoma GAWS
EGAS00000000115 Association studies using the Metabochip array - Samples analysed by the WTCCC (1958 British Birth Cohort (58BC), Hypertension cohort (HT), Type 2 Diabetes Cohort (T2D) and Coronary Artery Disease (CAD) cohort) Genotype
EGAS00000000099 Identification of genetic etiology of CAMRQ2 Genotype
EGAS00000000104 Genomewide association studies in ankylosing spondylitis Genotype
EGAS00000000097 Genome wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP Genotype
EGAS00000000118 WTCCC2 Schizophrenia study Genotype
EGAS00000000109 Genetics of gene expression in primary human immune cells Genotype
EGAS00000000108 Genome wide association scan in psoriasis Genotype
EGAS00000000132 The Haemgen RBC study Genotype
EGAS00000000105 Copy number analysis of Diamond-Blackfan Anemia (DBA) using SNP array Genotype
EGAS00000000129 The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Genotype
EGAS00000000137 MRCA and MRCE SNP genotypes Genotype
EGAS00000000122 METABRIC miRNA landscape Genotype/Expression
EGAS00000000083 METABRIC Genotype/Expression
EGAS00000000082 ZNF703 is a common Luminal B breast cancer oncogene that differentially regulates luminal and basal progenitors in human mammary epithelium. Genotype/Expression
EGAS00000000116 Molecular Sub-grouping of CNS-PNET Genotype/Expression array
EGAS00000000098 METABRIC Genotype/Expression array/H&E staines images
EGAS00000000121 WTCCC2 Pharmacogenomic Response to Statins study Genotypes & Phenotypes
EGAS00000000119 Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression Genotypes and Expression array
EGAS00000000087 Genome wide association study of severe malaria in Gambian mother-father-child trios GWAS
EGAS00000000031 HLA has strongest association with IgA nephropathy in genome-wide analysis GWAS
EGAS00000000017 WTCCC case-control study for Type 2 Diabetes - Combined Controls GWAS
EGAS00000000004 WTCCC case-control study for Coronary Artery Disease - Combined Controls GWAS
EGAS00000000036 HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans GWAS
EGAS00000000027 WTCCC case-control study for Tuberculosis GWAS
EGAS00000000020 WTCCC case-control study for Autoimmune Thyroid Disease GWAS
EGAS00000000003 WTCCC case-control study for Coronary Artery Disease GWAS
EGAS00000000043 WNT-signaling and Dupuytren's Disease GWAS
EGAS00000000101 The Genetic Analysis of multiple sclerosis GWAS
EGAS00000000103 WTCCC2 Ischaemic Stroke study GWAS
EGAS00000000037 Carbamazepine-induced hypersensitivity reactions in Europeans GWAS
EGAS00000000084 WTCCC2 case-control study for Ulcerative Colitis GWAS
EGAS00000000009 WTCCC case-control study for Hypertension GWAS
EGAS00000000012 WTCCC case-control study for Rheumatoid Arthritis - Combined Controls GWAS
EGAS00000000077 A Large-Scale, Consortium-Based Genomewide Association Study of Asthma GWAS
EGAS00000000053 Coeliac Disease Immunochip dataset GWAS
EGAS00000000015 WTCCC case-control study for Type 1 Diabetes - Combined Controls GWAS
EGAS00000000038 T1DGC GWAS 1958 British Birth Cohort controls GWAS
EGAS00000000018 WTCCC case-control study for Ankylosing Spondylitis GWAS
EGAS00000000022 WTCCC case-control study for Multiple Sclerosis GWAS
EGAS00000000088 Genome wide association study of severe malaria in Ghanain mother-farther-child trios GWAS
EGAS00000000010 WTCCC case-control study for Hypertension - Combined Controls GWAS
EGAS00000000014 WTCCC case-control study for Type 1 Diabetes GWAS
EGAS00000000024 WTCCC case-control study for Breast cancer GWAS
EGAS00000000011 WTCCC case-control study for Rheumatoid Arthritis GWAS
EGAS00000000025 WTCCC case-control study for Breast cancer - Combined Controls GWAS
EGAS00000000016 WTCCC case-control study for Type 2 Diabetes GWAS
EGAS00000000001 WTCCC case-control study for Bipolar Disorder GWAS
EGAS00000000019 WTCCC case-control study for Ankylosing Spondylitis - Combined Controls GWAS
EGAS00000000023 WTCCC case-control study for Multiple Sclerosis - Combined controls GWAS
EGAS00000000006 Genomewide Association Study of Inflammatory Bowel Disease GWAS
EGAS00000000032 Control sets genotyped with Dynal RELI SSO and Roche Molecular Systems platfroms GWAS
EGAS00000000008 WTCCC case-control study for Inflammatory Bowel Disease, T1D and RA - combined cases GWAS
EGAS00000000034 Genome wide association scan in Parkinson's disease GWAS
EGAS00000000021 WTCCC case-control study for Autoimmune Thyroid Disease - Combined Controls GWAS
EGAS00000000005 WTCCC case-control study for Coronary Artery Disease, Hypertension, T2D - combined cases GWAS
EGAS00000000055 Procardis study on novel susceptibility genes for coronary artery disease (CAD) GWAS
EGAS00000000039 WTCCC3 case-control study for Primary Biliary Cirrhosis GWAS
EGAS00000000007 Genomewide Association Study of Inflammatory Bowel Disease - Combined Controls GWAS
EGAS00000000026 MalariaGEN case-control study in the Gambia GWAS
EGAS00000000060 A genome-wide meta analysis on stroke and ischemic stroke within four populations GWAS
EGAS00000000002 WTCCC case-control study for Bipolar Disorder - Combined Controls GWAS
EGAS00000000013 WTCCC case-control study for T1D and RA - combined cases GWAS
phs000391.v1.p1 Determining Genetic Role in Treatment Response to Anti-Platelet Interventions (The PAPI Study) Interventional
phs000309.v2.p2 Coronary Artery Risk Development in Young Adults (CARDIA) Study - Gene Environment Association Studies Initiative (GENEVA) Longitudinal
phs000285.v2.p2 NHLBI Coronary Artery Risk Development in Young Adults (CARDIA) Candidate Gene Association Resource (CARe) Longitudinal
phs000366.v1.p1 NHLBI: Genetic modifiers of sickle cell anemia severity and fetal hemoglobin expression in the Cooperative Study of Sickle Cell Disease (CSSCD) Longitudinal
phs000236.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Coronary Artery Risk Development in Young Adults (CARDIA) Longitudinal
phs000428.v1.p1 Health and Retirement Study (HRS) Longitudinal
phs000153.v5.p5 FHS-Net Social Networks Longitudinal
phs000226.v2.p1 STAMPEED: Cardiovascular Health Study (CHS) GWAS to identify genetic variants associated with aging and CVD risk factors and events Longitudinal
phs000284.v1.p1 NHLBI Cleveland Family Study (CFS) Candidate Gene Association Resource (CARe) Longitudinal
phs000262.v2.p1 Ulcerative Colitis Human Microbiome Project (UCHMP) Longitudinal
phs000276.v1.p1 STAMPEED: Northern Finland Birth Cohort 1966 (NFBC1966) Longitudinal
phs000258.v2.p1 The Thrifty Microbiome: The Role of the Gut Microbiota in Obesity in the Amish Longitudinal
phs000287.v2.p1 Cardiovascular Health Study (CHS) Cohort: an NHLBI-funded observational study of risk factors for cardiovascular disease in adults 65 years or older Longitudinal
phs000223.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Atherosclerosis Risk in Communities (ARIC) Longitudinal
phs000007.v17.p6 Framingham Cohort Longitudinal
phs000656.v1.p1 Genetic measurement of memory B-cell recall using antibody repertoire sequencing Longitudinal
phs000580.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Strong Heart Study (SHS) and Strong Heart Family Study (SHFS) Longitudinal Cohort; Longitudinal; Family
phs000442.v1.p1 Drug Resistant Hypertension in African Americans' Exome Longitudinal; Case Set; Exome Sequencing
phs000266.v2.p1 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency Longitudinal; Case-Control
phs000279.v1.p1 NHLBI GO-ESP: Early-Onset Myocardial Infarction (Broad EOMI) Longitudinal; Case-Control; Exome Sequencing
phs000335.v2.p2 Genome-Wide associations of Lung Health Study (LHS) Longitudinal; Cohort
phs000169.v1.p1 Whole Genome Association Study of Visceral Adiposity in the Health Aging and Body Composition (Health ABC) Study Longitudinal; Cross-Sectional
phs000291.v2.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Lung Health Study of Chronic Obstructive Pulmonary Disease) Longitudinal; Exome Sequencing
phs000209.v10.p2 Multi-Ethnic Study of Atherosclerosis (MESA) Cohort Longitudinal; Family
phs000354.v1.p1 NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension Longitudinal; Family; Exome Sequencing
phs000259.v2.p1 Urethral Microbiome of Adolescent Males Longitudinal; Observational; Cohort
phs000166.v2.p1 National Heart, Lung, and Blood Institute SNP Health Association Asthma Resource Project (SHARP) Longitudinal; Parent-Offspring Trios; Case-Control
phs000128.v3.p3 GAW16 Framingham and Simulated Data Longitudinal; Population
phs000495.v1.p1 The Gene Partnership (TGP) - eMERGE Data Longitudinal; Prospective
phs000273.v1.p1 High-Throughput LINE-1 Retrotransposon Discovery in Humans Marker Discovery
phs000343.v1.p1 The Genomics and Randomized Trials Network (GARNET) Vitamin Intervention Stroke Prevention (VISP) trial Multicenter; Randomized; Clinical Trial; Double-Blind; Controlled Trial
phs000314.v1.p1 Genetic Associations in Idiopathic Talipes Equinovarus (Clubfoot) - GAIT Multiplex Families; Parent-Offspring Trios
phs000395.v1.p1 California Pacific Medical Center Research Breast Health Cohort Nested Case-Control
phs000210.v1.p1 A Genome-Wide Association Study in Patients Experiencing Musculoskeletal Adverse Events on NCIC CTG Trial MA.27 Evaluating Aromatase Inhibitors as Adjuvant Therapy in Early Breast Cancer. A Collaboration Between the NIH Pharmacogenetics Research Network and the RIKEN Yokohama Institute Center for Genomic Medicine. Nested Case-Control
phs000207.v1.p1 Cancer Genetic Markers of Susceptibility (CGEMS) Prostate Cancer Genome-Wide Association Study (GWAS) - Primary Scan (Stage 1) - PLCO Screening Trial Nested Case-Control
phs000091.v2.p1 GENEVA Genes and Environment Initiatives in Type 2 Diabetes (Nurses' Health Study/Health Professionals Follow-up Study) Nested Case-Control
phs000305.v1.p1 A Genome-Wide Association Study in Participants Experiencing Breast Cancer Events in High-Risk Postmenopausal Women Receiving Selective Estrogen Receptor Modulators on NSABP Trials P-1 and P-2. A Collaboration Between the NIH Pharmacogenetics Research Network and the RIKEN Yokohama Institute Center for Genomic Medicine Nested Case-Control
phs000306.v3.p1 A Multiethnic Genome wide Scan of Prostate Cancer Nested Case-Control; Cohort
phs000103.v1.p1 Genome-Wide Association Studies of Prematurity and Its Complications Nested Case-Control; Mother-Child Pairs
phs000440.v1.p1 Center for Craniofacial and Dental Genetics: Study of Dental Caries and Cleft Lip/Palate in Guatemala Nuclear Families
phs000095.v2.p1 Dental Caries: Whole Genome Association and Gene x Environment Studies Nuclear Families; Parent-Offspring Trios; Case-Control
phs000644.v1.p1 The Effect of the Menstrual Cycle on DNA Expression in the Normal Human Breast Epithelium Observational
phs000222.v1.p1 PREDICT-HD Huntington Disease Study Observational; Longitudinal
EGAS00001000109 UK10K NEURO ABERDEEN Other
EGAS00001000053 Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP) Other
EGAS00001000225 UK10K NEURO GURLING Other
EGAS00001000118 UK10K NEURO FSZ Other
EGAS00001000054 Identifying causative mutations for Thrombocytopenia with Absent Radii Other
EGAS00001000025 Whole exome sequencing of Severe Insulin Resistant patients Other
EGAS00001000026 Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders Other
EGAS00001000091 Grey Platelet Syndrome GPS Other
EGAS00001000121 UK10K NEURO IOP COLLIER Other
EGAS00001000185 Exome sequencing of Congenital Heart Disease families Leuven Other
EGAS00001000106 Bleeding Other
EGAS00001000057 An exome sequencing pilot study of HIV elite long term non progressors and rapid progressors Other
EGAS00001000142 Exome sequencing of patients with structural brain malformations Other
EGAS00001000111 UK10K NEURO ASD BIONED Other
EGAS00001000049 Exome sequencing in patients with Calcific Aortic Valve Stenosis Other
EGAS00001000125 UK10K RARE CHD Other
EGAS00001000117 UK10K NEURO EDINBURGH Other
EGAS00001000356 Exome sequencing of Bilateral Anophthalmia cases Pilot Study Other
EGAS00001000052 PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis. Other
EGAS00001000064 Genetics of Microcephalic Osteodysplatics Primordial Dwarfism Other
EGAS00001000189 Dyslipidemia Other
EGAS00001000093 Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density Other
EGAS00001000127 UK10K RARE COLOBOMA Other
EGAS00001000046 Mutational Screening of Human Acute Myleloid Leukaemia Samples Other
EGAS00001000119 UK10K NEURO FSZNK Other
EGAS00001000047 Whole Exome Sequencing of Permanent Neonatal Diabetes Patients Other
EGAS00001000115 UK10K NEURO ASD TAMPERE Other
EGAS00001000066 Congenital Heart Disease in UK Families Other
EGAS00001000077 Human Colorectal Cancer Exome Sequencing Other
EGAS00001000055 Analysis of genomic integrity of disease corrected human induced pluripotent stem cells by exome sequencing Other
EGAS00001000669 An oncogenic enhancer-rearrangement causes concomitant deregulation of EVI1 and GATA2 in leukemia. Targeted resequencing of chromosomal regions centered on 3q21 and 3q26 in conjunction with RNA-Seq from Acute Myeloid Leukemia patients. Other
EGAS00001000187 Exome sequencing of Congenital Heart Disease families Royal Brompton Other
EGAS00001000104 Hyperfibrinolysis Other
EGAS00001000041 Disorders of growth and insulin action Other
EGAS00001000128 UK10K RARE FIND Other
EGAS00001000048 Paroxysmal neurological disorders Other
EGAS00001000105 Platelet collagen defect Other
EGAS00001000114 UK10K NEURO ASD SKUSE Other
EGAS00001000101 UK10K RARE NEUROMUSCULAR Other
EGAS00001000107 Various Platelet Disorders Other
EGAS00001000269 Identification of the underlying causal variant in a multi generational family with autosomal dominant common variable immunodeficiency Other
EGAS00001000120 UK10K NEURO IMGSAC Other
EGAS00001000023 Identifying autosomal recessive mutations causing neurological disorders Other
EGAS00001000061 Lethal malformation syndrome Other
EGAS00001000159 Exome sequencing of patients with rare neurological disorders Other
EGAS00001000071 Tetralogy of Fallot Exome Trios Other
EGAS00001000687 Illumina Human OmniExpress genotyping data from the Cretan Greek isolate collection HELIC MANOLIS Other
EGAS00001000749 Study of pediatric hepatocellular carcinoma caused by bile salt export pump deficiency Other
EGAS00001000024 Piloting exome resequencing in consanguineous families with homozygosity mapping intervals Other
EGAS00001000130 UK10K RARE SIR Other
EGAS00001000126 UK10K RARE CILIOPATHIES Other
EGAS00001000113 UK10K NEURO ASD MGAS Other
EGAS00001000069 Determination of the molecular nature of the Vel blood group by exome sequencing Other
EGAS00001000063 Exome sequencing in patients with cardiac arrhythmias Other
EGAS00001000040 Exome sequencing of hyperplastic polyposis patients Other
EGAS00001000230 RNAseq Pulldown Other
EGAS00001000665 Integrated genomic characterization of adrenocortical carcinoma Other
EGAS00001000156 Otosclerosis gene discovery Other
EGAS00001000492 Assessment of genetic and epigenetic variation in human IPS cells Other
EGAS00001000243 Integrative Oncogenomics of multiple myeloma Other
EGAS00001000295 Gene Discovery in Age Related Hearing Loss Other
EGAS00001000137 ENGAGE Amendment 500 genes exon sequencing Other
EGAS00001000301 Cancer Genome Project Exome Sequencing Other
EGAS00001000716 Myelodysplastic cells in patients re-program mesenchymal stromal cells to establish a transplantable stem cell-niche disease unit. Other
EGAS00001000216 Melanoma TIL Study Exomes Other
EGAS00001000425 Congenital Heart Disease Pilot Other
EGAS00001000242 UK10K OBESITY GS Other
EGAS00001000157 Hearing loss in adults from South Carolina Other
EGAS00001000685 Recurrent epimutations activate gene body promoters in primary glioblastoma Other
EGAS00001000086 Dilgom Exome Other
EGAS00001000059 De novo mutations in schizophrenia Other
EGAS00001000572 Whole genome sequencing of tumour and normal paired samples of diffuse intrinsic pontine gliomas Other
EGAS00001000582 Resistance to anti-EGFR therapy in colorectal cancer Other
EGAS00001000677 Whole exome sequencing of 103 pairs BLCA-CN Other
EGAS00001000709 whole-genome sequencing in 17 ESCC cases and whole-exome sequencing in 71 cases Other
EGAS00001000667 Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing Other
EGAS00001000559 PILOT - To deeply sequence tumour and normal genomic DNA (including the precursor condition Barrett’s esophagus when material is available) to provide a comprehensive catalogue of somatic mutations. Other
EGAS00001000721 Germline and somatic SMARCA4 mutations characterize small-cell carcinoma of the ovary, hypercalcemic type. Other
EGAS00001000653 CD74-NRG1 fusions in lung adenocarcinoma Other
EGAS00001000244 Integrative Oncogenomics of multiple myeloma Other
EGAS00001000276 Genetic mechanisms of resistance to chemotherapy in breast cancer Other
EGAS00001000706 Whole-Genome sequencing of hepatocellular carcinomas Other
EGAS00001000644 Genome of the Netherlands Other
EGAS00001000713 UK10K COHORT IMPUTATION Other
EGAS00001000660 High number of somatic mutations found in the healthy blood compartment of a 115-year-old woman reveals oligoclonal hematopoiesis Other
EGAS00001000306 UK10K OBESITY TWINSUK Other
EGAS00001000521 Whole exome and whole genome sequencing of juvenile myelomonocytic leukemia (JMML) Other
EGAS00001000546 Landscape of gene mutations in Down syndrome-related myeloid disorders Other
EGAS00001000552 Reference epigenomes generated as part of the International Human Epigenomics Consortium (IHEC) Other
EGAS00001000488 Sequencing probands and families with severe insulin resistance syndromes Other
EGAS00001000532 Chromosome Y Philogeny in Sardinia Other
EGAS00001000472 Whole genome sequencing, SNP array and RNA-seq of uveal melanomas Other
EGAS00001000565 Hypermutation of the inactive X chromosome is a frequent event in cancer Other
EGAS00001000557 Whole exome sequencing of peripheral T-cell lymphoma (PTCL) Other
EGAS00001000584 Assessing the impact of low frequency coding variants on disease risk using the Exomechip Other
EGAS00001000558 DNA from colon cancer samples and matched normal samples was hybridized on Human 660W-Quad SNP arrays and sequenced in Illumina HiScanSQ. Other
EGAS00001000547 Distinct evolutionary trajectories of primary high‐grade serous ovarian cancers revealed through spatial mutational profiling Other
EGAS00001000585 Assessment of genomic copy number alterations in breast cancer Other
EGAS00001000388 Whole exome sequencing of young onset Primary Sclerosing Cholangitis Other
EGAS00001000387 Susceptibility genes for the development of SLE during treatment of IBD Other
EGAS00001000578 Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M-mutant pediatric high-grade gliomas Other
EGAS00001000605 Genome wide SNP genotyping of Central African rainforest hunter-gatherers and neighbouring agriculturalists Other
EGAS00001000599 Genome wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability Other
EGAS00001000646 The study provides comprehensive access to the set of EGA studies which may be useful as controls. Other
EGAS00001000628 WTCCC2 BO (Barretts oesophagus) samples Other
EGAS00001000641 Mutational context and diverse clonal development in early and late bladder cancer Other
EGAS00001000630 Illumina ExomeChip genotyping data from the Cretan Greek isolate collection HELIC MANOLIS Other
EGAS00001000554 Recurrent Somatic Mutations of PTPN1 in Primary Mediastinal B cell lymphoma and Hodgkin Lymphoma Other
EGAS00001000679 Integrative genomic profiling of hepatocellular adenomas reveals recurrent FRK activating mutations and mutational processes of malignant transformation Other
EGAS00001000668 Study on the consequences of prenatal famine exposure on DNA methylation. Other
EGAS00001000050 Investigating low frequency variants in CAD MI cases controls and pedigrees using whole exome sequencing and custom pulldowns Other
EGAS00001000551 Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma Other
EGAS00001000062 The International 1q type 2 diabetes consortium Other
EGAS00001000385 Crohn s Exome Sequencing Other
EGAS00001000043 Investigating low frequency variants in CAD MI cases controls and pedigrees using whole exome sequencing and custom pulldowns Other
EGAS00001000133 Genetic factors underlying premature coronary heart disease in patients with normal coronary arteries Other
EGAS00001000145 A study of the genetic basis of evation by Acute Myeloid Leukaemia of Graft vs Leukaemia effects after allogeneic bone marrow transplantation Other
EGAS00001000151 Exome sequencing Parkinson s disease patients Other
EGAS00001000171 Exome sequencing of blastic plasmacytoid dendritic cell neoplasms Other
EGAS00001000190 Paroxysmal Neurological Disorders 2 Other
EGAS00001000228 Whole exome sequencing of rare autoimmune related phenotypes Other
EGAS00001000240 Whole Exome sequencing in a large IBD pedigree Other
EGAS00001000335 A study of the molecular pathogenesis of Splenic Marginal Zone and Diffuse Large B Cell Lymphoma Other
EGAS00001000384 Oulu Dyslipidemia families Other
EGAS00001000386 Paroxysmal neurological Disorders Other
EGAS00001000317 xome sequencing of Congenital Heart Disease families Toronto Other
EGAS00001000368 Exome sequencing of Congenital Heart Disease families from the Competence Network Berlin Other
EGAS00001000607 SHH medulloblastoma samples Other
EGAS00001000712 Whole exome sequencing of 49 tumors and transcriptome sequencing of 44 tumors for adrenocortical tumors Other
EGAS00001000299 Integrative analysis of small cell lung cancer Other
EGAS00001000661 Whole-exome analysis of corticotropin-independent Cushing's syndrome Other
EGAS00001000744 ICGC medulloblastoma whole genome sequencing data, ICGC release 16 Other
EGAS00001000575 Whole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue Other
EGAS00001000673 Exploration of CNV's and SNV's in cancers with well-known genetic rearrangements: Identification of additional genetic changes in rearrangements-driven cancer Other
EGAS00001000650 Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids Other
EGAS00001000597 HKU Gastric Cancer Genomics study - WGS, DNA genotyping array, expression and methylation profiling Other
phs000500.v1.p1 Non-invasive whole genome sequencing of a human fetus Parent-Offspring Trios
phs000016.v2.p2 International Multi-Center ADHD Genetics Project Parent-Offspring Trios
phs000358.v1.p1 The PUWMa (Pfizer-funded study from the University of California Los Angeles (UCLA), Washington University (WASH-U), and Massachusetts General Hospital (MGH)) GWAS of ADHD Parent-Offspring Trios
phs000267.v1.p1 Autism Genome Project (AGP) Consortium - Whole Genome Association and Copy Number Variation Study of over 1,500 Parent-Offspring Trios - Stage I Parent-Offspring Trios
phs000139.v1.p1 International Multiple Sclerosis Genomics Consortium (IMSGC) Genome Wide Association Study of Multiple Sclerosis Parent-Offspring Trios
phs000479.v1.p1 National Heart Lung and Blood Institute Exome sequencing in SCID Parent-Offspring Trios
phs000553.v1.p1 Familial Exome Sequencing in Rare Pediatric Phenotypes Parent-Offspring Trios
phs000653.v1.p1 Epi4K: Gene Discovery in 4,000 Epilepsy Genomes Parent-Offspring Trios; Multiplex Families; Case-Control
phs000482.v1.p1 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Parent-Offspring Trios; Parent-Offspring Quads
phs000200.v7.p2 Women's Health Initiative Clinical Trial and Observational Study Partial Factorial Randomized; Double-Blind; Placebo-Controlled; Cohort; Longitudinal
EGAS00000000030 Nordic Samples on build 36 Population
EGAS00000000114 Krakow experiment - Northern Finland Birth Cohort 1966 Population
EGAS00000000033 Geographical structure and differential natural selection among North European populations Population
EGAS00000000028 WTCCC2 project controls - 1958 British Birth Cohort and National Blood Service Population
EGAS00000000056 Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts Population
EGAS00000000086 An immune response network associated with blood lipid levels Population
phs000185.v1.p1 Genetic Studies in the Hutterites Population
phs000604.v1.p1 Mapping Genes for Mammographic Density Population
phs000664.v1.p1 Characterization of Autosomal CNV Among the Negrito from Peninsular Malaysia Population
EGAS00001000020 Genetic variation in Kuusamo Population Genomics
EGAS00001000446 Passive and active DNA methylation and the interplay with genetic variation in gene regulation Population Genomics
phs000211.v1.p1 National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository Human Variation Panels including 100 African-Americans (HD100AA), 100 Caucasians (HD100CAU), 100 Han People of Los Angeles (HD100CHI) and 100 Mexican American Community of Los Angeles (HD100MEX) Population-Based Control Set
phs000228.v3.p1 NIH Human Microbiome Project - Core Microbiome Sampling Protocol A (HMP-A) Population-Based Control Set
phs000145.v2.p2 POPRES: Population Reference Sample Population; Control Set
phs000215.v1.p1 Genome-Wide Association Analysis of Serum Iron in the InCHIANTI and BLSA Population; Longitudinal
phs000497.v1.p1 Genetic analysis of Hirschsprung disease Probands; Mendelian; Family
phs000474.v1.p1 Biology and Molecular Analysis of Human Hematopoiesis Genetics Probands; Mendelian; Family
phs000478.v1.p1 Strabismus, CCDD and other anomalies Probands; Mendelian; Family
phs000561.v1.p1 Metabolism and Genetics of Hypobetalipoproteinemia Probands; Mendelian; Family
phs000511.v1.p1 Treatment of genetic screening of hypertriglyceridemia type I, III, and V - HTG Amsterdam Probands; Mendelian; Family
phs000485.v1.p1 Gene mutation and rescue in congenital diaphragmatic hernia Probands; Mendelian; Family
phs000476.v1.p1 Molecular defects in pseudohypoparathyroidism or related disorders Probands; Mendelian; Family
phs000484.v1.p1 Molecular genetic analysis of inherited kidney dysfunction Probands; Mendelian; Family
phs000475.v1.p1 The molecular basis of inherited reproductive disorders Probands; Mendelian; Family
phs000514.v1.p1 Identification of Genes Involved in Familial Coronary Artery Disease Probands; Mendelian; Family
phs000477.v1.p1 Genetic defects in familial renal disorders Probands; Mendelian; Family
phs000492.v1.p1 Genetics of human developmental brain disorders Probands; Mendelian; Family
phs000264.v2.p1 The Human Virome in Children and its Relationship to Febrile Illness Prospective
phs000261.v1.p1 The Microbial Ecology of Bacterial Vaginosis: A Fine Scale Resolution Metagenomic Analysis Prospective; Cohort
phs000096.v4.p1 Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study - Maternal Glycemia and Birthweight GEI Study Prospective; Observational; Cohort
phs000547.v1.p1 A Genome-Wide Association Study in Breast Cancer Patients from the Prospectively Randomized SUCCESS Trial Prospective; Randomized; Phase III
phs000138.v2.p1 GWAS for Genetic Determinants of Bone Fragility in European-American Premenopausal Women Quantitative Cross-Sectional
phs000430.v1.p1 Hepatitis C Antiviral Long-term Treatment Against Cirrhosis (HALT-C) Randomized Controlled Clinical Trial
phs000396.v1.p1 Division of Cancer Epidemiology and Genetics (DCEG) Imputation Reference Dataset Reference Set
EGAS00001000096 Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort Resequencing
EGAS00001000136 "Targeted High Throughput Sequencing in Clinical Cancer Settings: Formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity" Resequencing
EGAS00001000134 An evaluation of different strategies for large scale pooled sequencing study design Resequencing
EGAS00001000453 Identification of mutations and structural rearrangements in plasma DNA form metastatic prostate cancer patients Resequencing
EGAS00001000268 Accurate mutation detection in leukemia by re-sequencing a cancer gene set Resequencing
EGAS00001000359 Mutation analysis in human iPS cells Resequencing
EGAS00001000001 Exome Resequencing of Progressive Hearing Loss Resequencing
EGAS00001000439 Noninvasive prenatal molecular karyotyping from maternal plasma Resequencing
EGAS00001000285 Validation of a Haloplex platform for targeted re sequencing of the exons of 25 genes Resequencing
EGAS00001000373 Deep sequencing analysis of human iPSC specific SNVs in donor cell population Resequencing
EGAS00001000437 Deep sequencing of S7EPC genome Resequencing
EGAS00001000441 Subclonal analysis in S7RE2 and S7RE14 iPS cells Resequencing
EGAS00001000476 Negligible impact on missing heritability of autoimmune-locus rare coding-region variants Resequencing
EGAS00001000079 Cardiogenics re sequencing Resequencing
phs000505.v1.p1 Gene fusion discovery through RNA sequencing of nine human glioblastoma stem cell lines RNA Sequencing; Stem Cell Lines
phs000379.v1.p1 Genetic Epidemiology Network of Arteriopathy (GENOA) Sibling Cohort
phs000304.v1.p1 Genes and Blood Clotting Study (GABC) Sibling Cohort
phs000299.v1.p1 The mutation spectrum revealed by paired genome sequences from a lung cancer patient Single Patient; Tumor vs. Matched-Normal
phs000159.v4.p2 Whole-Genome Sequencing of Acute Myeloid Leukemia Single Patient; Tumor vs. Matched-Normal
EGAS00001000009 SCLC Synthetic Genomics
EGAS00001000035 Sequencing Acute Myeloid Leukaemia Synthetic Genomics
phs000424.v1.p1 Common Fund (CF) Genotype-Tissue Expression Project (GTEx) Tissue Expression; Reference Set
EGAS00001000442 Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome Transcriptome Analysis
EGAS00001000212 MuTHER adipose tissue small RNA expression Transcriptome Analysis
EGAS00001000411 The Cardiogenics study Transcriptome Analysis
EGAS00001000571 POT1 splice site mutant analysis Transcriptome Analysis
EGAS00001000367 Assessment of genetic and epigenetic variation in human IPS cells RNA Transcriptome Analysis
EGAS00001000413 The Transcriptome of PLX4032 resistance Transcriptome Analysis
EGAS00001000327 BLUEPRINT RNA-seq data for common cells in the haematopoietic lineages, from adult and cord blood samples. Transcriptome Analysis
EGAS00001000283 RNA Seq in Patients with Primordial Dwarfism Transcriptome Analysis
phs000562.v1.p1 The Genetic Landscape of Mutations in Burkitt Lymphoma Tumor vs. Matched-Normal
phs000472.v1.p1 Estrogen Receptor Positive Breast Cancer: Aromatase Inhibitor Response Study Tumor vs. Matched-Normal
phs000235.v3.p1 National Cancer Institute Cancer Genome Characterization Initiative (CGCI) Tumor vs. Matched-Normal
phs000201.v1.p1 Acquired Copy Number Alterations in Adult Acute Myeloid Leukemia Genomes Tumor vs. Matched-Normal
phs000144.v1.p1 National Human Genome Research Institute Tumor Sequencing Project (TSP) - Lung Adenocarcinoma Tumor vs. Matched-Normal
phs000418.v1.p1 Temporal Dissection of Tumorigenesis in Primary Cancers Tumor vs. Matched-Normal
phs000328.v1.p1 High density copy number analysis and whole exome sequencing of diffuse large B-cell lymphoma Tumor vs. Matched-Normal
phs000178.v6.p6 National Institutes of Health The Cancer Genome Atlas (TCGA) Tumor vs. Matched-Normal
phs000245.v1.p1 Whole Genome Sequencing of a Triple Negative Breast Cancer Patient: Matched Primary Tumor, Normal, Metastasis and Xenograft samples Tumor vs. Matched-Normal; Metastasis; Xenograft
phs000348.v1.p1 Towards a Genomic Understanding of Myeloma Tumor; Cohort
phs000142.v1.p1 A Whole Genome Association Scan for Myopia and Glaucoma Endophenotypes using Twin Studies Twin
phs000257.v2.p1 Metagenomic Analysis of the Structure and Function of the Human Gut Microbiota in Crohn's Disease Twin
phs000256.v2.p2 The Vaginal Microbiome: Disease, Genetics and the Environment Twin; Clinical Cohort
phs000181.v1.p1 Genomewide Association Study of Alcohol Use and Alcohol Use Disorder in Australian Twin-Families (OZ-ALC GWAS) Twin; Family
EGAS00001000381 Whole-genome sequencing analysis of low-grade astrocytomas within the ICGC PedBrain Tumor Project Whole Genome Sequencing
EGAS00001000347 Genetic landscape of pediatric Medulloblastoma Whole Genome Sequencing
EGAS00001000451 Plasma-Seq of patients with metastatic prostate cancer Whole Genome Sequencing
EGAS00001000208 Cancer Genome Libraries Tests Whole Genome Sequencing
EGAS00001000257 Genetic landscape of pediatric Adrenocortical Tumor Whole Genome Sequencing
EGAS00001000246 Genetic landscape of pediatric Infant Acute Lymphoblastic leukemia Whole Genome Sequencing
EGAS00000000052 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome Whole Genome Sequencing
EGAS00001000231 Assessment of genetic and epigenetic variation in human IPS cells Whole Genome Sequencing
EGAS00001000192 Somatic Histone H3 Mutations in Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Paediatric Glioblastomas Whole Genome Sequencing
EGAS00001000380 GEenetic landscape of hypodiploid acute lymphoblastic leukemia Whole Genome Sequencing
EGAS00001000263 Genetic landscape of pediatric Osteosarcoma Whole Genome Sequencing
EGAS00001000305 P647 Targeted resequencing project Whole Genome Sequencing
EGAS00000000062 Complex Landscapes of Somatic Rearrangements in Human Breast Cancer Genomes Whole Genome Sequencing
EGAS00000000051 A small cell lung cancer genome reports complex tobacco exposure signatures Whole Genome Sequencing
EGAS00001000379 Genetic landscape of non-Down syndrome acute megkaryoblastic leukemia Whole Genome Sequencing
EGAS00001000253 Whole genome sequencing of pediatric BCR-ABL1 positive acute lymphoblastic leukemia Whole Genome Sequencing
EGAS00001000346 Genetic landscape of pediatric Retinoblastoma Whole Genome Sequencing
EGAS00001000274 Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies Whole Genome Sequencing
EGAS00001000328 Sequencing and analysis of a South Asian-Indian personal genome Whole Genome Sequencing
EGAS00001000254 Genetic landscape of pediatric ependymoma Whole Genome Sequencing
EGAS00001000271 Comparing sequencing of four proto-typical Burkitt lymphomas (BL) with IG-MYC translocation. Whole Genome Sequencing
EGAS00001000152 Full genome sequencing of a monozygotic twin discordant for schizophrenia Whole Genome Sequencing
EGAS00001000090 UK10K COHORT ALSPAC Whole Genome Sequencing
EGAS00001000222 Whole Genome Sequencing of Neuroblastoma Whole Genome Sequencing
EGAS00000000029 Massive Genomic Rearrangment Acquired in a Single Catastrophic Event During Cancer Development Whole Genome Sequencing
EGAS00001000349 Genetic landscape of core-binding factor leukemia Whole Genome Sequencing
EGAS00001000213 Association of Age at Diagnosis and Genetic Mutations in Patients with Neuroblastoma Whole Genome Sequencing
EGAS00001000255 Genetic landscape of pediatric Low Grade Gliomas & Glioneuronal tumors Whole Genome Sequencing
EGAS00001000085 Linking genes, genomic instability and molecular subgroups in medulloblastoma Whole Genome Sequencing
EGAS00001000158 Complete Genomics paired end sequencing; Ovarian cancer Whole Genome Sequencing
EGAS00000000040 Mutation of FOXL2 in granulosa cell tumors of the ovary Whole Genome Sequencing
EGAS00001000256 Genetic landscape of pediatric Rhabdomyosarcoma Whole Genome Sequencing
EGAS00000000054 Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution Whole Genome Sequencing
EGAS00001000108 UK10K COHORT TWINSUK Whole Genome Sequencing
EGAS00000000064 The patterns and dynamics of genomic instability in metastatic pancreatic cancer Whole Genome Sequencing
EGAS00001000215 ICGC PedBrain: Deep-seuqencing of childhood brain tumors. Whole Genome Sequencing
EGAS00001000393 Whole-genome-Sequencing of adult medulloblastoma Whole Genome Sequencing
EGAS00001000433 ICGC Benchmarking Exercise Whole Genome Sequencing
EGAS00001000143 Kuusamo low coverage WGS Whole Genome Sequencing
EGAS00001000068 ORCADES WGA Whole Genome Sequencing
EGAS00001000008 Whole Genome Sequencing of hiPS cells Whole Genome Sequencing
EGAS00001000238 Ethiopia Genome Project low coverage Whole Genome Sequencing
EGAS00001000322 De novo mutations in cell free foetal DNA cffDNA Whole Genome Sequencing
EGAS00001000484 Whole genome and transcriptome analysis of a sporadic and recurring parathyroid carcinoma Whole Genome Sequencing
EGAS00001000182 Signatures of mismatch repair deficiency in cancer genomes Whole Genome Sequencing
EGAS00001000323 Identifying genetic consequences of Epstein-Barr Virus transformation by comparing an individual’s genomic DNA with that of its lymphoblastoid cell line. Whole Genome Sequencing
phs000640.v1.p1 HeLa Cell Genome Sequencing Studies Whole Genome Sequencing
EGAS00001000237 Ethiopia Genome Project high coverage Whole Genome Sequencing
EGAS00001000399 Integrated genomic analysis reveals the driver mutations and evolution patterns fundamental in the progression and transformation of follicular lymphoma Whole Genome Sequencing
EGAS00001000510 Landscape of somatic mutations and clonal evolution in mantle cell lymphoma Whole Genome Sequencing
EGAS00001000631 WGS low coverage sequencing of Mossi from Burkina Faso Whole Genome Sequencing
EGAS00001000398 High powered complex trait association mapping through whole genome sequencing of a selected subpopulation of the INGI Val Borbera genetic isolate Whole Genome Sequencing
EGAS00001000252 Whole genome sequencing of Italian genetic isolates Friuli Venezia Giulia Whole Genome Sequencing
EGAS00001000458 Whole Genome sequencing of individuals from Val Borbera Italy Whole Genome Sequencing
EGAS00001000060 Whole genome sequencing in a multiplex Crohn s disease family Whole Genome Sequencing
EGAS00001000065 Whole genome sequencing of Crohn s disease patients Whole Genome Sequencing
EGAS00001000329 Identification of low frequency variants associated with ulcerative colitis using whole genome sequencing Whole Genome Sequencing
phs000340.v2.p1 The genomic complexity of early T-cell progenitor acute lymphoblastic leukemia Whole Genome Sequencing; Tumor vs. Matched-Normal; Case Set