What are Studies

Studies are experimental investigations of a particular phenomenon or trait.

Total number of Studies: 1686
Displaying 1 - 1686

Study Accession Titlesort descending Type
EGAS00000000034 Genome wide association scan in Parkinson's disease GWAS
EGAS00001002633 Isotype resolved sequencing of B cell receptor in sorted memory populations Transcriptome Analysis
EGAS00001000985 RNAseq Colorectal organoids and tumoroids Cancer Genomics
EGAS00001000136 "Targeted High Throughput Sequencing in Clinical Cancer Settings: Formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity" Resequencing
EGAS00001001019 (h)MeDIP-Seq of high-risk prostate cancer Other
EGAS00001000033 1 Fanconi Anemia transformation to AML Cancer Genomics
EGAS00001000724 100 TUMOURS - 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 - This study contains tumour samples from a cohort of 100 patients. Other
EGAS00001001207 15x WGS HELIC MANOLIS Whole Genome Sequencing
EGAS00001002331 160 WES and 25 WGS for HBV related HCC, and 15 WES for ICC belongs LICA-CN. Other
EGAS00001000170 20 Matched Pair Breast Cancer Genomes Cancer Genomics
EGAS00001000988 30X WGS sequencing of 100 individuals from the general Greek population Whole Genome Sequencing
EGAS00001001147 463 newly diagnosed patients with Multiple Myeloma underwent whole exome sequencing of tumour and peripheral blood DNA. Other
EGAS00001001178 560 whole-genome sequenced breast cancers Other
EGAS00001000888 65 prostate cancer cases WGS and transcriptome sequencing project Other
EGAS00001001475 71 Whole-exome sequencing of Esophageal Squamous Cell Carcinoma on Chinese Patients Other
EGAS00001001016 A Cancer Cell-Line Titration Series for Evaluating Somatic Classification Exome Sequencing
phs000171.v1.p1 A Case-Controlled Study for Genotype-Phenotype Associations in Multiple Sclerosis (MS) Case-Control
EGAS00001001332 A collection of 142 samples used to evaluate the sensitivity and specificity of small-scale variation detection in exome-capture data with a particular focus on indel detection. Other
EGAS00001000927 A Comparative Analysis of Algorithms for Somatic SNV Detection in Cancer Other
EGAS00001001539 A comprehensive assessment of somatic mutation detection in cancer using whole genome sequencing Other
EGAS00000000052 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome Whole Genome Sequencing
EGAS00001000245 A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome Cancer Genomics
EGAS00001002428 A dataset compiled as a resource a for orthogonal assessment of exon CNV calling in NGS data Other
EGAS00001002256 A Functional Network of Gastric-Cancer-Associated Splicing Events Controlled by Dysregulated Splicing Factors Other
phs000093.v2.p2 A Genome Wide Scan of Lung Cancer and Smoking Case-Control; Cohort
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
phs000547.v1.p1 A Genome-Wide Association Study in Breast Cancer Patients from the Prospectively Randomized SUCCESS Trial Prospective; Randomized; Phase III
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
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
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
phs000421.v1.p1 A Genome-Wide Association Study of Fuchs' Endothelial Corneal Dystrophy (FECD) Case-Control; Family
phs000277.v1.p1 A Genome-Wide Association Study of Heroin Dependence Case-Control
phs000336.v1.p1 A Genome-Wide Association Study of Lung Cancer Risk Case-Control; Cohort
phs000203.v1.p1 A Genome-Wide Association Study of Peripheral Arterial Disease 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
phs000170.v1.p1 A Genome-Wide Association Study on Cataract and HDL in the Personalized Medicine Research Project Cohort Case-Control
EGAS00000000060 A genome-wide meta analysis on stroke and ischemic stroke within four populations GWAS
EGAS00001001766 A Genomic History of Aboriginal Australia Other
EGAS00001000647 A Genomics-Based Classification of Human Lung Tumors Other
EGAS00000000077 A Large-Scale, Consortium-Based Genomewide Association Study of Asthma GWAS
EGAS00000000048 A MITF germline mutation predisposes to melanoma and renal cell carcinoma GAWS
phs000306.v3.p1 A Multiethnic Genome wide Scan of Prostate Cancer Nested Case-Control; Cohort
EGAS00001002075 A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Other
EGAS00001002091 A new subgroup of hepatocellular adenomas with sonic hedgehog pathway activation Other
EGAS00001002272 A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family Other
phs000419.v1.p1 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma Family; Whole Genome Sequencing
EGAS00001001805 A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma Other
EGAS00001001150 A personalised medicine approach for ponatinib-resistant chronic myeloid leukaemia Other
phs000657.v1.p1 A Pilot Study Using Next Generation Sequencing in Advanced Cancers: Feasibility and Challenges Case Set
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
EGAS00001000574 A sequence-based genetic dissection of human immune cell types and implications for immune-related disease. Other
EGAS00000000051 A small cell lung cancer genome reports complex tobacco exposure signatures Whole Genome Sequencing
EGAS00001001385 A somatic reference standard for cancer genome sequencing with COLO829 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
phs000490.v1.p1 A Study of the Genetic Causes of Complex Pediatric Disorders Case Set; Control Set
EGAS00001000335 A study of the molecular pathogenesis of Splenic Marginal Zone and Diffuse Large B Cell Lymphoma Other
phs000142.v1.p1 A Whole Genome Association Scan for Myopia and Glaucoma Endophenotypes using Twin Studies Twin
phs000140.v1.p1 A Whole Genome Association Search for Type 2 Diabetes Genes in African Americans Case-Control
EGAS00001000817 A WTCCC2 genome-wide association study for psychosis endophenotype (PE) in individuals from UK, Germany, Holland, Spain and Australia. Other
EGAS00001001099 ABIS 1 MeDIP-seq Other
EGAS00001000167 Abnormal foetal development exome trios Other
phs000249.v1.p1 Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain Control Set
EGAS00001000268 Accurate mutation detection in leukemia by re-sequencing a cancer gene set Resequencing
EGAS00001001303 Accurate sample assignment in a multiplexed, ultra-sensitive, high-throughput sequencing assay for minimal residual disease Other
phs000201.v1.p1 Acquired Copy Number Alterations in Adult Acute Myeloid Leukemia Genomes Tumor vs. Matched-Normal
EGAS00001000619 Acquisition of additional mutations drives accelerated progression of NPM1 positive CMML to AML Resequencing
EGAS00001000201 Acute Lymphoblastic Leukemia Exome sequencing Cancer Genomics
EGAS00001000200 Acute Lymphoblastic Leukemia Exome sequencing 2 Cancer Genomics
EGAS00001000058 Acute Lymphoblastic Leukemia Sequencing Cancer Genomics
EGAS00001000209 Acute Myeloid Leukemia Sequencing Cancer Genomics
EGAS00001000193 ADCC Exome Sequencing Cancer Genomics
EGAS00001000030 ADCC Rearrangement Screen Cancer Genomics
phs000182.v2.p1 Age related Macular Degeneration (AMD)-- Michigan, Mayo, AREDS, Pennsylvania (MMAP) Cohort Study: A Joint Genome Wide Association Study Case-Control
EGAS00001002226 Aging and genome-wide patterns of DNA methylation in an African rainforest hunter-gathering population Other
phs000425.v1.p1 Alcohol Dependence GWAS in European- and African Americans Case-Control; Affected Sib Pairs
EGAS00001000082 ALK inhibitors in the context of ALK dependent cancer cell lines Cancer Genomics
EGAS00001001608 All available datasets of DEEP Other
phs000572.v1.p1 Alzheimer's Disease Sequencing Project (ADSP) Case-Control; Family
EGAS00001001779 AML clonal phylogeny Other
EGAS00001000275 AML targeted resequencing study Cancer Genomics
EGAS00001001675 Amplicon based sequencing of drug resistant lung cancer cell lines Cancer Genomics
EGAS00001001639 Amplicon based sequencing of drug resistant organoids Cancer Genomics
EGAS00001001003 An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease Other
EGAS00001000134 An evaluation of different strategies for large scale pooled sequencing study design Resequencing
EGAS00001000057 An exome sequencing pilot study of HIV elite-long term non progressors and rapid progressors Other
EGAS00001000522 An exome sequencing study of the HIV elite long term non progressors and rapid progressors CASCADE cohorts Other
EGAS00000000086 An immune response network associated with blood lipid levels Population
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
EGAS00001000896 An isolated cohort of samples from the Greek island of Crete that have been genotyped on the Illumina CoreExome array. 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
EGAS00001001000 An RCOR1 loss-associated gene expression signature identifies a prognostically significant DLBCL subgroup Other
EGAS00001002192 An Unusual Genomic Variant of Pancreatic Ductal Adenocarcinoma with an Indolent Clinical Course Other
EGAS00001000534 Analysis of DNA methylation in normal B cells and chronic lymphocytic leukemia Other
EGAS00001000055 Analysis of genomic integrity of disease corrected human induced pluripotent stem cells by exome sequencing Other
EGAS00001000415 Analysis of resistance to PLX4032 Other
EGAS00001000525 Analysis of somatic mutations in normal blood AML and MDS samples Other
EGAS00001001784 Analysis of tumor periphery and center-specific mutations in renal cell carcinoma Other
EGAS00001001155 Anaplastic Meningioma V3 cancer gene panel Cancer Genomics
EGAS00001000859 Anaplastic Meningioma WGS X10 Cancer Genomics
EGAS00001001209 Anaplastic oligodendroglioma exome and RNA sequencing data Metagenomics
EGAS00001000518 Angiosarcoma follow up 2 validation study Cancer Genomics
EGAS00001000405 Angiosarcoma follow up study Cancer Genomics
EGAS00001000590 Angiosarcoma RNA sequencing Cancer Genomics
EGAS00001000589 Angiosarcoma targeted pulldown cancer gene panel Cancer Genomics
EGAS00001000588 Angiosarcoma whole exome Cancer Genomics
EGAS00001000959 APCDR AGV Project: The African Genome Variation Project (dense array genotyping data) Other
EGAS00001000363 APCDR AGV Project: WGS of an Ugandan population Other
EGAS00001000286 APCDR AGV Project: WGS of South African Zulu Other
EGAS00001000960 APCDR AGV Project: Whole genome sequencing of 3 African populations (curated data) Other
EGAS00001000545 APCDR Uganda GWAS: Genome wide sequence variation and susceptibility loci for cardiometabolic traits in a sub-Saharan African population (UGWAS component) Other
EGAS00001001558 APCDR Uganda GWAS: Genome wide sequence variation and susceptibility loci for cardiometabolic traits in a sub-Saharan African population (UGWAS component) Other
EGAS00001001153 Aplastic anemia Other
EGAS00000000075 ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas Full Transcriptome Sequencing
phs000298.v1.p1 ARRA Autism Sequencing Collaboration Case-Control
EGAS00001001767 Ashkenazi Jewish Leukoencephalopathy Exome Sequencing
EGAS00001000584 Assessing the impact of low frequency coding variants on disease risk using the Exomechip Other
EGAS00001002159 Assessment of de novo copy number variations in Italian patients with schizophrenia. Other
EGAS00001000741 Assessment of epigenetic variation in human iPS cells Medip Epigenetics
EGAS00001000231 Assessment of genetic and epigenetic variation in human IPS cells Whole Genome Sequencing
EGAS00001000492 Assessment of genetic and epigenetic variation in human IPS cells Other
EGAS00001000367 Assessment of genetic and epigenetic variation in human IPS cells RNA Other
EGAS00000000059 Assessment of genomic copy number alterations in breast cancer Cancer Genomics
EGAS00001000585 Assessment of genomic copy number alterations in breast cancer Other
EGAS00001000213 Association of Age at Diagnosis and Genetic Mutations in Patients with Neuroblastoma Whole Genome Sequencing
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
EGAS00001001235 Associations between APOE status and cognitive ability across the lifecourse Other
EGAS00001000947 ATAC SEQ MAIN PHASE 1 Transcriptome Analysis
EGAS00001001853 Australia and New Guinea haplotype phasing Population Genomics
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
EGAS00001001694 Automated system for scoring hematoxylin and eosin-stained ovarian cancer sections by identifying single cells uncovered that stromal cell ratio is a significant predictor for overall survival and progression-free survival. Other
phs000394.v1.p1 Autopsy-Confirmed Parkinson Disease GWAS Consortium (APDGC) Case-Control
EGAS00001000567 Autozygosity pilot British Pakistani from Birmingham 2 Other
EGAS00001000511 Autozygosity pilot Pakistani from Birmingham Cancer Genomics
EGAS00001000717 Autozygosity pilot QMUL Other
EGAS00001000462 Autozygosity pilot Born in Bradford Other
EGAS00001000360 Balanced Brain Tumour Whole Genome Sequencing Cancer Genomics
EGAS00001000174 Balanced Ependymoma Cancer Genomics
EGAS00001001520 BAP1 sequence of uveal melanoma cell lines Cancer Genomics
EGAS00001000733 Barcelona kids with melanoma Whole Genome Sequencing
EGAS00001001310 Barcoding reveals complex clonal dynamics of de novo transformed human mammary cells Other
EGAS00001000726 BARRETT'S - 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 - This study contains Barrett's oesophagus samples Other
EGAS00001000403 BASIS Genome Validation Study Cancer Genomics
EGAS00001000707 BASIS RNAseq Cancer Genomics
EGAS00001000852 Benchmark and validation of whole exome sequencing of a trio and singleton Other
phs000494.v1.p1 Better Outcomes for Children: GWAS from Cincinnati Children's Hospital Medical Center (CCHMC) - eMERGE Phase II data - (dbGaP Deposit 1) Cohort
EGAS00001002298 BGISEQ-500 Cancer Dataset - WGS tumour/normal pairs Other
EGAS00001000662 Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma Other
EGAS00001002440 Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia Other
EGAS00001001009 Biased allelic expression in human primary fibroblast single cells. Other
EGAS00001000616 BIG MS Pilot Cancer Genomics
EGAS00001002400 Biological insights from the whole genome sequences of human embryonic stem cell lines Other
phs000474.v1.p1 Biology and Molecular Analysis of Human Hematopoiesis Genetics Probands; Mendelian; Family
EGAS00001000106 Bleeding Other
EGAS00001001456 BLUEPRINT 450K DNA methylation profiles of monocytes, neutrophils and T cells from healthy donors Other
EGAS00001001596 BLUEPRINT ATAC-seq data for cells in the haematopoietic lineages, from adult and cord blood samples Other
EGAS00001000418 BLUEPRINT Bisulfite-seq (CNAG) Epigenetics
EGAS00001001638 BLUEPRINT Bisulfite-seq and Whole Genome Sequencing of mantle cell lymphoma Other
EGAS00001000326 BLUEPRINT ChIP-seq data for cells in the haematopoietic lineages, from adult and cord blood samples. Epigenetics
EGAS00001000951 BLUEPRINT ChIP-seq of Epigenetic programming during monocyte to macrophage differentiation and trained innate immunity Other
EGAS00001001637 BLUEPRINT DNA Methylation 450K data of mantle cell lymphoma Other
EGAS00001001598 BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins Other
EGAS00001001196 BLUEPRINT DNA methylation profiling of B-cell differentiation using Illumina HumanMethylation 450K BeadArray Other
EGAS00001000351 BLUEPRINT DNase accessibility (NCMLS) Epigenetics
EGAS00001000954 BLUEPRINT DNase accessibility of Epigenetic programming during monocyte to macrophage differentiation and trained innate immunity Other
EGAS00001000753 BLUEPRINT EpiVar ChIP-seq for naive CD4+ T-cells Other
EGAS00001000870 BLUEPRINT EpiVar ChIP-seq of Monocytes & Neutrophils Other
EGAS00001000752 BLUEPRINT EpiVar RNA-seq for Naive naive CD4+ T-cells Other
EGAS00001000689 BLUEPRINT EpiVar Whole Genome Sequencing Other
EGAS00001001197 BLUEPRINT Gene expression analysis during human B-cell differentiation using the Affymetrix Human Genome U219 Array Other
EGAS00001002070 BLUEPRINT Hematopoietic Stem/Progenitor Cell Methylomes Epigenetics
EGAS00001000327 BLUEPRINT RNA-seq data for common cells in the haematopoietic lineages, from adult and cord blood samples. Transcriptome Analysis
EGAS00001000284 BLUEPRINT RNA-seq data for rare cells in the haematopoietic lineages, from adult and cord blood samples. Transcriptome Analysis
EGAS00001000953 BLUEPRINT RNA-seq of Epigenetic programming during monocyte to macrophage differentiation and trained innate immunity Other
EGAS00001001110 Blueprint RNAseq profile of purified plasma cells from multiple myeloma patients and tonsils of healthy donors Other
EGAS00001000501 Bone Cancer Rare Types Whole Genome Cancer Genomics
EGAS00001002380 Botswana 15 autosomal unlinked microsatellites Other
EGAS00001000172 BRAF and MEK resistant cell line clones Cancer Genomics
phs000417.v2.p1 BrainCloud: Data from human postmortem brain procurement for the neuropathology section Control Set
phs000646.v1.p1 Breakpoint detection using long insert whole genome sequencing Case Set
EGAS00001001431 Breast Cancer - Subtype defined by an amplification of the HER2 gene Other
EGAS00001001908 Breast Cancer - Very young women Other
EGAS00001000207 Breast Cancer Exome Resequencing Cancer Genomics
EGAS00001000211 Breast Cancer Exome Sequencing Cancer Genomics
EGAS00001000002 Breast Cancer Follow Up Series Cancer Genomics
EGAS00001000420 Breast Cancer FRT RNA seq Cancer Genomics
EGAS00001000166 Breast Cancer Matched Pair Cell Line Whole Genomes Cancer Genomics
EGAS00001001913 Breast Cancer PDTX Encyclopaedia Other
EGAS00001000300 Breast cancer sequential sampling study Cancer Genomics
EGAS00001000596 Breast Cancer Sequential Sampling Targeted Capture Cancer Genomics
EGAS00001000195 Breast Cancer Somatic Genetics Study Cancer Genomics
EGAS00001000210 Breast Cancer Whole Genome Sequencing Cancer Genomics
EGAS00001001972 Breast Heterogeneity Validation Cancer Genomics
phs000275.v1.p1 Brigham and Women's Hospital Multiple Sclerosis Genetic Collection Case-Control
EGAS00001000087 Burden of Disease in Sarcoma Cancer Genomics
EGAS00001000083 CAGEKID: Cancer Genomics of the Kidney Cancer Genomics
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
phs000395.v1.p1 California Pacific Medical Center Research Breast Health Cohort Nested Case-Control
EGAS00001000978 Cancer Cell Line Exome Sequencing Cancer Genomics
EGAS00001000206 Cancer Exome Resequencing Cancer Genomics
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
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
EGAS00001000208 Cancer Genome Libraries Tests Whole Genome Sequencing
EGAS00001000301 Cancer Genome Project Exome Sequencing Other
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
EGAS00001000003 Cancer Single Cell Sequencing Other
EGAS00001001085 Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci Other
EGAS00001002614 Capture Hi-C on MM Other
EGAS00000000037 Carbamazepine-induced hypersensitivity reactions in Europeans GWAS
EGAS00001000079 Cardiogenics re sequencing Resequencing
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
EGAS00001000653 CD74-NRG1 fusions in lung adenocarcinoma Other
EGAS00001000849 Celiac disease case-control North Indian Immunochip dataset Other
EGAS00001002424 Cell fate mapping of human glioblastoma reveals an invariant stem cell hierarchy pre- and post-treatment Other
EGAS00001000178 Cell Line Sub Clone Rearrangement Screen Cancer Genomics
EGAS00001001059 Cell lines with telomere fusion induced rearrangements Cancer Genomics
EGAS00001000442 Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome Transcriptome Analysis
phs000440.v1.p1 Center for Craniofacial and Dental Genetics: Study of Dental Caries and Cleft Lip/Palate in Guatemala Nuclear Families
EGAS00001001803 Characterization of a human iPSC-derived endocrine pancreas model Other
phs000664.v1.p1 Characterization of Autosomal CNV Among the Negrito from Peninsular Malaysia Population
EGAS00001000407 Characterization of individual foci of multicentric multifocal breast cancer using targeted next generation sequencing Cancer Genomics
EGAS00001000876 Characterization of iPSC derived macrophages cardiovascular pilot Transcriptome Analysis
phs000659.v1.p1 Characterization of the Gut-Associated Microbiome in Inflammatory Pouch Complications Following Ileal Pouch-Anal Anastomosis 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
phs000199.v1.p1 Children's Hospital of Philadelphia (CHOP) Control Copy Number Variation (CNV) Study Control Set
EGAS00001002414 ChIP Seq data of multiple myeloma and plasma cell leukaemia cell lines Other
EGAS00001000203 ChIP sequencing in Cancer Cell Lines Cancer Genomics
phs000481.v1.p1 Cholesterol and Pharmacogenetics (CAP) Study Clinical Trial
EGAS00001000533 Chondromyxoid fibroma Cancer Genomics
EGAS00001000038 Chondrosarcoma Exome Cancer Genomics
EGAS00001000277 Chondrosarcoma Targeted Sequencing Study Cancer Genomics
EGAS00001000181 Chondrosarcoma Validation Study Cancer Genomics
EGAS00001000188 Chordoma Exome Sequencing Cancer Genomics
EGAS00001000895 Chordoma Extension known cancer genes Cancer Genomics
EGAS00001000892 Chordoma Extension Study Cancer Genomics
EGAS00001000410 Chordoma Sequencing Project RNAseq Cancer Genomics
EGAS00001000409 Chordoma Sequencing Project Whole Genome Cancer Genomics
EGAS00001000280 Chordoma Targeted Sequencing Study Cancer Genomics
EGAS00001001961 Chromosome contacts in activated T cells identify autoimmune disease-candidate genes Other
EGAS00001000532 Chromosome Y Philogeny in Sardinia Other
EGAS00001000872 Chugai colorectal organoid sequencing Cancer Genomics
phs000382.v1.p1 CIDR Whole Exome Sequencing in Joubert Syndrome Cohort; Family; Exome Sequencing
phs000125.v1.p1 CIDR: Collaborative Study on the Genetics of Alcoholism Case Control Study Case-Control
phs000126.v1.p1 CIDR: Genome Wide Association Study in Familial Parkinson Disease (PD) Case-Control
phs000288.v1.p1 Ciliopathies Exome Sequencing Initiative Case Set
phs000616.v1.p1 CIP: Obesity-Diabetes Familial Risk, Viva La Familia Study Cohort; Cross-Sectional; Longitudinal
EGAS00001001839 Circulating Tumor DNA Analysis Detects Minimal Residual Disease and Predicts Recurrence in Patients with Stage II Colon Cancer Other
EGAS00001002207 Circumventing intratumoral heterogeneity to identify potential therapeutic targets in hepatocellular carcinoma. Details please contact lifuqiang@genomics and zhaoxin@genomics.cn. Other
EGAS00001001265 cis-eQTL mapping of human pancreatic islets Metagenomics
EGAS00001002423 Cisplatin increases sensitivity to FGFR inhibition in patient-derived xenograft models of lung squamous cell carcinoma Other
EGAS00001002419 Clinical and genetic analysis of a rare syndrome associated with neoteny Other
EGAS00001000949 Clinical and Molecular Investigation of Familial CEBPA-mutated Acute Myeloid Leukaemia Other
EGAS00001001257 Clinical Implications of Genomic Alterations in the Tumor and Circulation of Pancreatic Cancer Patients Other
EGAS00001000011 CLL cancer Sample Sequencing Cancer Genomics
EGAS00001000014 CLL Cancer Whole Genome Sequencing Cancer Genomics
EGAS00000000092 CLL Genome Cancer Genomics
phs000549.v1.p1 Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia Case Set
EGAS00001001687 Clonal expansion of mutated cell population in bladder urothelium Cancer Genomics
EGAS00001000520 Cloning of the breakpoint of a novel translocation associated with T acute lymphoblastic leukaemia Cancer Genomics
EGAS00001000470 CMF RNA sequencing Cancer Genomics
EGAS00001000191 CML blast phase rearrangement screen Cancer Genomics
EGAS00001000218 CML Discovery Project Cancer Genomics
EGAS00001001264 CMML Collection of WES, WGS, RNA-Seq and ERRBS data Other
EGAS00001002481 CNV detection in targeted NGS panel data Other
EGAS00000000053 Coeliac Disease Immunochip dataset GWAS
phs000652.v1.p1 Cohort-Based Genome-Wide Association Study of Glioma (GliomaScan) Cohort; Case-Control; Case Set
phs000019.v1.p1 Collaborative Association Study of Psoriasis Case-Control
EGAS00001001261 Colorectal Adenoma Gene Screen Cancer Genomics
EGAS00001000869 Colorectal organoids and tumoroids pulldown Cancer Genomics
EGAS00001000881 Colorectal organoids and tumour tissue Cancer Genomics
EGAS00001000513 COLORS in IBD Whole exome sequencing of early onset IBD patients Other
EGAS00001000655 Combination therapies for personalized cancer medicine Cancer Genomics
EGAS00001001112 Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers Other
EGAS00001002073 Combining transcription factor binding affinities with open chromatin data for accurate gene expression prediction Other
phs000424.v1.p1 Common Fund (CF) Genotype-Tissue Expression Project (GTEx) Tissue Expression; Reference Set
EGAS00001002576 Comparative genomic analysis of colorectal cancer in different stage Other
EGAS00001002607 Comparative genomics research for Chinese colorectal cancer Other
EGAS00001001801 Comparing nodal versus bony metastatic spread using tumour phylogenies Other
EGAS00001000271 Comparing sequencing of four proto-typical Burkitt lymphomas (BL) with IG-MYC translocation. Whole Genome Sequencing
EGAS00001001900 Comparison of EGF and PDGF driven glioblastomas. Other
EGAS00001001678 Comparison of HCC cell lines and primary HCCs Other
EGAS00000000131 Comparison of the performance of two commercial genome-wide association study genotyping platforms in Han Chinese Samples Genotype
EGAS00001000563 Comparison of transcriptional response of induced pluripotent stem iPS cell derived and monocyte derived macrophages to bacterial lipopolysaccharide stimulation Transcriptome Analysis
phs000501.v1.p1 Compilation of Aggregate Genomic Data for General Research Use Aggregate Genomic Data
EGAS00001000158 Complete Genomics paired end sequencing; Ovarian cancer Whole Genome Sequencing
EGAS00000000062 Complex Landscapes of Somatic Rearrangements in Human Breast Cancer Genomes Whole Genome Sequencing
EGAS00001002200 Comprehensive analyses of somatic TP53 mutation in tumors with variable mutant allele frequency Other
EGAS00001000506 Comprehensive analysis of a rare paediatric brain tumour; atypical teratoid rhabdoid tumour (ATRT) using genomic, epigenomic and transcriptomic techniques. Other
EGAS00001001297 Comprehensive analysis of the (epi)genome of pediatric atypical teratoid/rhabdoid tumours (AT/RTs) Other
EGAS00001001653 Comprehensive genomic characterization of cholangiocarcinoma Other
EGAS00001000925 Comprehensive genomic profiles of small cell lung cancer Other
EGAS00001002404 Comprehensive investigation of genome architecture of gastric adenocarcinoma with whole-genome sequencing in the Chinese population. Other
EGAS00001002402 Comprehensive investigation of genome architecture of papillary thyroid cancer with whole-exon sequencing in the Chinese population. Other
EGAS00001001025 Comprehensive miRNA Sequence Analysis Reveals Survival Differences in Diffuse Large B-cell Lymphoma Patients Other
EGAS00001001953 Comprehensive molecular profiling identifies novel genetic drivers and subtypes underlying medulloblastoma Other
EGAS00001001236 Comprehensive Transcriptional Analysis of Early Stage Urothelial Carcinoma using whole transcriptome sequencing Other
EGAS00001000980 Confirmation of a founder effect in a Northern European population (FRL) of a new beta-globin variant: HBB:c.23 26dup (codons 8/9 (+AGAA)) Other
EGAS00001001124 Congenital anosmia 1 Other
EGAS00001001429 Congenital anosmia 2 Other
EGAS00001000425 Congenital Heart Disease Pilot Other
EGAS00001000066 Congenital Heart Disease in UK Families Other
EGAS00001001516 Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study Other
EGAS00001000544 Consanguineous families with CHD KAIMRC Other
EGAS00001001202 CONSERTING: integrating copy number analysis with structural variation detection Other
EGAS00000000032 Control sets genotyped with Dynal RELI SSO and Roche Molecular Systems platfroms GWAS
EGAS00000000105 Copy number analysis of Diamond-Blackfan Anemia (DBA) using SNP array Genotype
EGAS00001001715 Copy number profiling of primary samples and cell lines of retinoblastoma Other
EGAS00001002343 Copy number profiling of putative cancer stem from pleural effusion aspirates from breast cancer patients Other
phs000565.v1.p1 Copy Number Variation in Congenital Kidney Malformations Case Set
phs000309.v2.p2 Coronary Artery Risk Development in Young Adults (CARDIA) Study - Gene Environment Association Studies Initiative (GENEVA) Longitudinal
EGAS00001000274 Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies Whole Genome Sequencing
EGAS00001000549 CPC-GENE Prostate Cancer Heterogeneity Study Other
EGAS00001001060 CRISPR screen M14 NCI H3122 Cancer Genomics
EGAS00001000080 CRLF2 sequencing project Cancer Genomics
EGAS00001000081 CRLF2 sequencing project Exomes Cancer Genomics
EGAS00001000385 Crohn s Exome Sequencing Other
EGAS00001001570 Data from the paper Context-specific Effects of TGFβ/SMAD3 in Cancer Are Modulated by the Epigenome. Tufegdzic et al, Cell Reports 2015 Other
EGAS00001002108 De novo assembly of 150 Danish genomes reveals rich structural complexity Other
EGAS00001000322 De novo mutations in cell free foetal DNA cffDNA Whole Genome Sequencing
EGAS00001000059 De novo mutations in schizophrenia Other
EGAS00001000775 Deciphering Developmental Disorders (DDD) Other
phs000393.v1.p1 deCODE Genetics study on genes contributing to nicotine dependence in humans Case Set; Case-Control
EGAS00001001219 Deconvolution Other
EGAS00001000374 Deep RNA sequencing in CLL Other
EGAS00001000373 Deep sequencing analysis of human iPSC specific SNVs in donor cell population Resequencing
EGAS00001000857 Deep sequencing of melanoma for driver mutations Cancer Genomics
EGAS00001000437 Deep sequencing of S7EPC genome Resequencing
EGAS00001001837 Dense fine mapping study identifies new susceptibility loci for primary biliary cirrhosis Population Genomics
phs000095.v2.p1 Dental Caries: Whole Genome Association and Gene x Environment Studies Nuclear Families; Parent-Offspring Trios; Case-Control
EGAS00001001923 Deregulation of DUX4 and ERG in acute lymphoblastic leukemia Other
EGAS00001002106 Detecting PKD1 variants in Polycystic Kidney Disease patients by single-molecule long-read sequencing Other
EGAS00001000850 Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Whole Genome Sequencing
EGAS00001000069 Determination of the molecular nature of the Vel blood group by exome sequencing Other
phs000391.v1.p1 Determining Genetic Role in Treatment Response to Anti-Platelet Interventions (The PAPI Study) Interventional
phs000234.v1.p1 Development and Use of Network Infrastructure for High-Throughput GWA Studies Case-Control
EGAS00001000916 Developmental Dysplasia of the Hip DDH Population Genomics
phs000086.v2.p1 Diabetes Control and Complications Trial (DCCT) and Epidemiology of Diabetes Interventions and Complications Study (EDIC) Clinical Trial; Longitudinal
EGAS00001000287 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability Exome Sequencing
phs000252.v2.p1 Diet, Genetic Factors, and the Gut Microbiome in Crohn's Disease Cross-Sectional; Controlled Trial; Longitudinal Cohort
EGAS00001000086 Dilgom Exome Other
EGAS00001002577 Direct Detection of Early-stage Cancers Using Circulating Tumor DNA Other
phs000310.v1.p1 Discovery of Non-ETS Gene Fusions in Human Prostate Cancer using Next Generation RNA Sequencing Cohort
EGAS00001000551 Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma Other
EGAS00001000812 Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma Cancer Genomics
EGAS00001000041 Disorders of growth and insulin action Other
EGAS00001001752 Dissection of the molecular complexity of colorectal cancer in pre-clinical models identifies predictive signatures of sensitivity to EGFR inhibitors Other
EGAS00001000547 Distinct evolutionary trajectories of primary high grade serous ovarian cancers revealed through spatial mutational profiling Other
EGAS00001002093 Distinct human small intestine intermediary and mature macrophage subsets originating from blood monocytes Other
EGAS00001001572 Distinct portrayal of lesions in synchronous multifocal lung adenocarcinoma revealed by genome sequencing Other
EGAS00001000625 Divergence between high metastatic tumor burden and low circulating tumor DNA concentration in metastasized breast cancer Other
EGAS00001000824 Diverse modes of genomic alterations in hepatocellular carcinoma Other
phs000396.v1.p1 Division of Cancer Epidemiology and Genetics (DCEG) Imputation Reference Dataset Reference Set
EGAS00001000948 DKFZ-HIPO Project H021/NCT MASTER 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
phs000619.v1.p1 DNA Methylation Analysis of Peripheral Blood Cells from Siblings Discordant for ASD Case-Control
phs000597.v1.p1 DNA Methylation Analysis of Prostate Cancer Cell Lines and Tissues Using Next Generation Sequencing Case-Control
EGAS00001001255 DNA methylation and somatic mutations converge on cell cycle and define similar evolutionary histories in brain tumors Other
EGAS00001001922 DNA methylation and the adverse metabolic outcomes of adiposity Other
EGAS00001001287 DNA methylation profiles of graft donors in allogeneic hematopoietic stem cell transplantation Other
EGAS00001000910 DNA methylation repeatability in the Lothian Birth Cohorts of 1921 and 1936. Other
EGAS00001000740 DNA repair in BLM deficient hiPSCs Other
EGAS00001002224 DONSON encodes a novel replication fork protection factor mutated in microcephalic dwarfism. Other
EGAS00001001132 DPY30 ChIP seq Epigenetics
EGAS00001000226 Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma Cancer Genomics
phs000442.v1.p1 Drug Resistant Hypertension in African Americans' Exome Longitudinal; Case Set; Exome Sequencing
EGAS00001002335 Drugging the catalytically inactive state of RET kinase in RET-rearranged tumors. Other
EGAS00001000952 Dynamics of genomic clones in breast cancer patient xenografts at single cell resolution Other
EGAS00001000189 Dyslipidemia Other
EGAS00001001879 EATL-II STUDY Other
EGAS00001000955 EBV AID project Cancer Genomics
phs000255.v1.p1 Effect of Crohn's Disease Risk Alleles on Enteric Microbiota Case-Control
EGAS00001001146 Efficacy of JAK/STAT pathway inhibition in murine xenograft models of early T-cell precursor (ETP) acute lymphoblastic leukemia Other
EGAS00001000482 Egypt Genome Project high coverage whole genome sequencing Whole Genome Sequencing
EGAS00001000480 Egypt Genome Project low coverage whole genome sequencing Whole Genome Sequencing
phs000381.v1.p1 eMERGE Geisinger eGenomic Medicine (GeM) - MyCode Project Controls Control Set
phs000387.v1.p1 eMERGE Geisinger eGenomic Medicine (GeM) Abdominal Aortic Aneurysm Project (AAAP) Case Set
phs000408.v1.p1 eMERGE Genome-Wide Association Studies of Obesity Case Set
phs000380.v1.p1 eMERGE Genome-Wide Association Studies of Obesity (Metabochip) Case Set
phs000297.v1.p1 eMERGE Network Study of the Genetic Determinants of Resistant Hypertension Case-Control
EGAS00001000137 ENGAGE Amendment 500 genes exon sequencing Other
EGAS00001001252 Engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus Other
EGAS00001001036 English Longitudinal Study of Ageing Genome wide genotyping using the Illumina HumanOmni2.5-8 Other
EGAS00001001743 ENU CCK 81 cetuximab pilot project Cancer Genomics
EGAS00001001778 ENU HT 29 BRAF Triple Therapy Clones Cancer Genomics
EGAS00001001777 ENU LS 411N TripleTherapy Cancer Genomics
EGAS00001001744 ENU NCI H508 cetuximab fixed concentration project Cancer Genomics
EGAS00001001745 ENU NCI H508 Cetuximab SecondRound Cancer Genomics
EGAS00001000587 Epi Tax targeted sequencing Cancer Genomics
phs000653.v1.p1 Epi4K: Gene Discovery in 4,000 Epilepsy Genomes Parent-Offspring Trios; Multiplex Families; Case-Control
EGAS00001001595 Epigenetic dynamics of monocyte to macrophage differentiation Other
EGAS00001000682 Epigenetic Intratumor Heterogeneity and Clonal Evolution in Aggressive Prostate Cancer Other
EGAS00001001624 Epigenetic profiling of human CD4+ memory T cells reveals their proliferative history and argues in favor of a progressive differentiation model driven by epigenetically controlled master regulators. Other
phs000385.v1.p1 Epigenetic Profiling of Human Colorectal Cancer Case Set
EGAS00001001821 Epigenome and transcriptome profiling of chronic lymphocytic leukemia patients Other
EGAS00001000443 Epigenomic alterations define lethal CIMP-positive ependymomas of infancy Other
EGAS00001000900 Epigenomic and Genomic Correlates of Aggression in Curable Prostate Cancer Other
EGAS00001000197 ER HER2 PR breast Cancer genome sequencing Cancer Genomics
EGAS00001000164 ESGI Molecular diagnosis for mitochondrial disorders Other
EGAS00001000747 ESGI Exome sequencing in Circulating Tumor Cells to determine therapy related markers Other
EGAS00001000523 ESGI Identification of novel genes and mechanisms leading to Primary Ciliary Dyskinesia Other
phs000472.v1.p1 Estrogen Receptor Positive Breast Cancer: Aromatase Inhibitor Response Study Tumor vs. Matched-Normal
EGAS00001000102 ET Exome Cancer Genomics
EGAS00001000237 Ethiopia Genome Project high coverage Whole Genome Sequencing
EGAS00001000238 Ethiopia Genome Project low coverage Whole Genome Sequencing
EGAS00001000293 Evaluation of size selection on cancer specific sequencing libraries Cancer Genomics
EGAS00001001848 Evolution of a FLT3-TKD mutated subclone at meningeal relapse in acute promyelocytic leukemia (H021) Other
EGAS00000000074 Evolution of an adenomacarcinoma in response to selection by targeted kinase inhibitors Full Genome Sequencing
EGAS00001001179 Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment. Other
EGAS00001000908 Evolution of the African pygmy phenotype Other
EGAS00001001757 Evolutionary Genome Analysis of Transformation into Small Cell Carcinomas from Lung Adenocarcinomas Other
EGAS00001000719 Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse Other
EGAS00001000362 Ewings Sarcoma Rearrangement Screen Cancer Genomics
EGAS00001000419 Ewings Sarcoma RNA seq drug sensitivity Cancer Genomics
EGAS00001001876 Exome and RNA sequencing of relapsed TCF3-PBX1 t(1;19) acute lymphoblastic leukemia Other
EGAS00001000001 Exome Resequencing of Progressive Hearing Loss Resequencing
EGAS00001001973 Exome sequence data for germline, primary tumor, and relapse tumor of a transformed non-Hodgkins lymphoma patient with unexpected long-time remission Other
EGAS00001000531 Exome sequence of probands in Barrett s oesophagus families Other
EGAS00001001194 Exome sequencing Other
phs000359.v1.p1 Exome sequencing and disease analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Case Set
phs000365.v1.p1 Exome Sequencing for Diseases of the Immune System: X-linked Immunodeficiency with Magnesium Defect, EBV Infection, and Neoplasia (XMEN) Case-Control
EGAS00001000296 Exome sequencing identifies mutation of the ribosome in T-cell acute lymphoblastic leukemia Exome Sequencing
EGAS00001001250 Exome Sequencing in Moebius Syndrome Other
EGAS00001000049 Exome sequencing in patients with Calcific Aortic Valve Stenosis Other
EGAS00001000063 Exome sequencing in patients with cardiac arrhythmias Other
EGAS00001000971 Exome sequencing of 1000 population control samples from the UK 1958 birth cohort Other
EGAS00001001093 Exome Sequencing Of 75 Individuals From Multiply Affected Coeliac Families Other
EGAS00001002059 Exome sequencing of a cohort of Rett syndromelike patients Other
phs000392.v1.p1 Exome sequencing of autosomal recessive progressive external ophthalmoplegia (arPEO) Exome Sequencing; Single Patient
EGAS00001000356 Exome sequencing of Bilateral Anophthalmia cases Pilot Study Other
EGAS00001000171 Exome sequencing of blastic plasmacytoid dendritic cell neoplasms Other
EGAS00001000368 Exome sequencing of Congenital Heart Disease families from the Competence Network Berlin Other
EGAS00001000185 Exome sequencing of Congenital Heart Disease families Leuven Other
EGAS00001000187 Exome sequencing of Congenital Heart Disease families Royal Brompton Other
EGAS00001001021 Exome sequencing of EBV driven lymphoma Cancer Genomics
phs000598.v1.p1 Exome Sequencing of Esophageal Adenocarcinoma Case Set; Tumor vs. Matched-Normal
EGAS00001000153 Exome Sequencing of Gastric Cancer Exome Sequencing
EGAS00001001002 Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets Other
EGAS00001001263 Exome Sequencing of Human myeloid malignancies Cancer Genomics
EGAS00001000040 Exome sequencing of hyperplastic polyposis patients Other
EGAS00001000266 Exome sequencing of patients with Ewings sarcoma Other
EGAS00001000159 Exome sequencing of patients with rare neurological disorders Other
EGAS00001000142 Exome sequencing of patients with structural brain malformations Other
EGAS00001002418 Exome sequencing of pseudomyxoma peritonei Other
EGAS00001001948 Exome sequencing of samples taken at multipl time points to monitor therapy response in AML Other
EGAS00001001086 Exome sequencing of short SGA children with IGF I and insulin resistance Other
EGAS00001000344 Exome sequencing of thyroid disease in Val Borbera Other
EGAS00001002113 Exome sequencing of United Kingdom Brain Expression Consortium samples Other
EGAS00001001612 Exome sequencing of uterine leiomyosarcomas Other
EGAS00001000151 Exome sequencing Parkinson s disease patients Other
EGAS00001001108 Exome Sequencing Reveals Frequent Inactivating Mutations in BAP1, ARID1A, and PBRM1 in Intrahepatic Cholangiocarcinomas Other
EGAS00001000904 Exome sequencing to identify predisposition to Wilms tumour Other
EGAS00001000736 Exome-seq, RNA-Seq, SNP array profiling of gastric tumor samples and cell lines. Other
EGAS00001000217 Exome-sequencing identifies new oncogenes and tumor suppressor genes recurrently altered in hepatocellular carcinoma Exome Sequencing
EGAS00001001463 Exome-sequencing of human B cell lymphoma cell lines Other
EGAS00001001737 Exome-sequencing of two UFM individuals and their Fragile X family members. Other
EGAS00001001015 Exomes of High-risk Prostate cancer 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
EGAS00001001240 Exploring the role of mtDNA variation in Multiple Sclerosis in a large cohort of discordant monozygotic twins Metagenomics
EGAS00001000763 Expressed fusion transcripts in rare bone tumours Cancer Genomics
phs000525.v1.p1 Expressed Pseudogenes in the Transcriptional Landscape of Human Cancers Cohort
phs000553.v1.p1 Familial Exome Sequencing in Rare Pediatric Phenotypes Parent-Offspring Trios
EGAS00001000017 Familial Melanoma Sequencing Exome Sequencing
EGAS00001000088 Familial Thrombocytosis germline exome sequencing Cancer Genomics
phs000333.v1.p1 Family Investigation of Nephropathy and Diabetes (FIND) Study Case-Control
EGAS00001000402 Feasibility of targeted capture sequencing in FFPE cancer specimens 2 Cancer Genomics
EGAS00001000297 Feasibility of targeted capture sequencing in routinely collected FFPE cancer specimens Cancer Genomics
EGAS00001000990 Fetal hemoglobin in sickle cell disease patients from Tanzania Other
EGAS00001000466 FFPE CPA Accreditation Study Cancer Genomics
EGAS00001000692 FFPE CPA Accreditation Study Part 2 Cancer Genomics
EGAS00001000836 FFPE Normal Panel V3 Cancer Panel Cancer Genomics
EGAS00001001967 FFPE whole genome pilot Cancer Genomics
phs000153.v5.p5 FHS-Net Social Networks Longitudinal
phs000601.v1.p1 Filtering and Annotation of Variants That Are Rare (FAVR) Family
EGAS00001000648 FinHer Breast Cancer Study Cancer Genomics
EGAS00001001047 Finnish population cohort genotyping B Population Genomics
EGAS00001001004 First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for Body Mass Index and Type 2 Diabetes Other
EGAS00001001433 Fixative optimisation study for BRITROC project Other
EGAS00001001689 Flemish Gut Flora Project Other
phs000260.v2.p1 Foregut Microbiome in Development of Esophageal Adenocarcinoma Case-Control
phs000007.v17.p6 Framingham Cohort Longitudinal
EGAS00001000176 FRCC Exome sequencing Cancer Genomics
EGAS00001000982 Frequent alterations in cytoskeleton remodeling genes in primary and metastatic Chinese lung adenocarcinomas Other
EGAS00001000650 Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids Other
EGAS00001001234 Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Other
EGAS00001000152 Full genome sequencing of a monozygotic twin discordant for schizophrenia Whole Genome Sequencing
EGAS00001000075 Functional characterisation of CpG islands in human and mouse tissues Epigenetics
phs000487.v1.p1 Functionally Active Copy Number Variants Associated with Prostate Cancer Risk Case-Control
phs000311.v1.p1 FusionSeq: a modular framework for finding gene fusions by analyzing Paired-End RNA-Sequencing data Cohort
EGAS00001001145 FWO project G 0687 12 X10 WGS Cancer Genomics
EGAS00001001204 G&T-seq: parallel sequencing of the genomes and transcriptomes of single cells Whole Genome Sequencing
EGAS00001000037 Gastric and Esophageal tumour rearrangement screen Cancer Genomics
phs000128.v3.p3 GAW16 Framingham and Simulated Data Longitudinal; Population
EGAS00001000380 GEenetic landscape of hypodiploid acute lymphoblastic leukemia Whole Genome Sequencing
EGAS00001000649 GEL WGS Comparison Cancer Genomics
EGAS00001000295 Gene Discovery in Age Related Hearing Loss Other
phs000292.v1.p1 Gene Environment Association Studies (GENEVA): Genetics of Early Onset Stroke (GEOS) Study Case-Control
phs000551.v1.p1 Gene Expression Signatures in CATHGEN Case-Control; Cohort
EGAS00001002189 Gene fusion and transcriptomic landscapes of sarcomas Other
phs000505.v1.p1 Gene fusion discovery through RNA sequencing of nine human glioblastoma stem cell lines RNA Sequencing; Stem Cell Lines
phs000485.v1.p1 Gene mutation and rescue in congenital diaphragmatic hernia Probands; Mendelian; Family
EGAS00001000288 Genentech Colon Cancer Screen Cancer Genomics
EGAS00001000334 Genentech Small Cell Lung Cancer (SCLC) Screen Other
phs000384.v1.p1 Genentech whole genome and transcriptome sequencing of four hepatocellular carcinoma patients Case Set
EGAS00001002459 Generation and comparison of CRISPR/Cas9 and Cre-mediated genetically engineered mouse models of sarcoma Other
phs000304.v1.p1 Genes and Blood Clotting Study (GABC) Sibling Cohort
EGAS00001001165 Genesis of Two Most Prevalent Variants Causing Combined Pituitary Hormone Deficiency in 21 Populations Other
phs000497.v1.p1 Genetic analysis of Hirschsprung disease Probands; Mendelian; Family
phs000204.v1.p1 Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS) Exome Sequencing
phs000244.v1.p1 Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS) Exome Sequencing; Pedigree Whole Genome Sequencing
EGAS00001001457 Genetic and epigenetic characterization of adenoid cystic carcinoma Other
phs000314.v1.p1 Genetic Associations in Idiopathic Talipes Equinovarus (Clubfoot) - GAIT Multiplex Families; Parent-Offspring Trios
EGAS00001000229 Genetic background for cardio vascular disorders in the general Finnish population Whole Genome Sequencing
EGAS00001000162 Genetic background for the major psychiatric disorders in the general Finnish population Whole Genome Sequencing
EGAS00001002182 Genetic Basis of Hepatosplenic T Cell Lymphoma (HSTL) Other
EGAS00001001895 Genetic control of the transcriptomic response of monocytes to bacterial and viral stimuli assessed by RNA-seq in Africans and Europeans Other
phs000477.v1.p1 Genetic defects in familial renal disorders Probands; Mendelian; Family
phs000379.v1.p1 Genetic Epidemiology Network of Arteriopathy (GENOA) Sibling Cohort
phs000179.v2.p2 Genetic Epidemiology of COPD (COPDGene) Funded by the National Heart, Lung, and Blood Institute Case-Control
phs000303.v1.p1 Genetic Epidemiology of Refractive Error in the KORA (Kooperative Gesundheitsforschung in der Region Augsburg) Study Cohort
EGAS00001000133 Genetic factors underlying premature coronary heart disease in patients with normal coronary arteries Other
EGAS00001000478 Genetic factors underlying premature MI in Greek families without vessel disease Other
phs000573.v1.p1 Genetic Heterogeneity of Diffuse Large B Cell Lymphoma Case-Control
EGAS00001002565 Genetic history of the Comorian populations. Other
EGAS00001000348 Genetic landscape of Early T-cell precursor acute lymphoblastic leukaemia Whole Genome Sequencing
EGAS00001000932 Genetic Landscape of Esophageal Squamous Cell Carcinoma Defined by Exome Sequencing on Chinese Patient Cohort and Cell Lines Other
EGAS00001000974 Genetic landscape of malignant peripheral nerve sheath tumors Other
EGAS00001000379 Genetic landscape of non-Down syndrome acute megkaryoblastic leukemia Whole Genome Sequencing
EGAS00001000257 Genetic landscape of pediatric Adrenocortical Tumor Other
EGAS00001000254 Genetic landscape of pediatric ependymoma Whole Genome Sequencing
EGAS00001000246 Genetic landscape of pediatric Infant Acute Lymphoblastic leukemia Whole Genome Sequencing
EGAS00001000255 Genetic landscape of pediatric Low Grade Gliomas & Glioneuronal tumors Whole Genome Sequencing
EGAS00001000347 Genetic landscape of pediatric Medulloblastoma Whole Genome Sequencing
EGAS00001000263 Genetic landscape of pediatric Osteosarcoma Whole Genome Sequencing
EGAS00001000346 Genetic landscape of pediatric Retinoblastoma Whole Genome Sequencing
EGAS00001000256 Genetic landscape of pediatric Rhabdomyosarcoma Whole Genome Sequencing
phs000656.v1.p1 Genetic measurement of memory B-cell recall using antibody repertoire sequencing Longitudinal
EGAS00001000276 Genetic mechanisms of resistance to chemotherapy in breast cancer Other
phs000371.v1.p1 Genetic Modifiers of Huntington's Disease Cohort
EGAS00001001115 Genetic profiling of mucosal melanoma Other
EGAS00001001256 Genetic screening of GPI anchor protein synthesis Other
phs000185.v1.p1 Genetic Studies in the Hutterites Population
EGAS00001001048 Genetic studies of pregnancy related cardiometabolic disorders in Central Asian Northern European and Colombian populations Cancer Genomics
phs000302.v1.p1 Genetic Study on Nephropathy in Type-2 Diabetes Case-Control
EGAS00001001857 Genetic subclone heterogeneity of tumor-initiating cells in human colorectal cancer Other
phs000449.v2.p1 Genetic Variation and Signatures of Natural Selection in Diverse Africans Control Set
EGAS00001000020 Genetic variation in Kuusamo Population Genomics
EGAS00001000762 Genetics and Networks of Congenital Heart Defects Other
phs000416.v1.p1 Genetics of Cerebral Hemorrhage with Anticoagulation (GOCHA) Case-Control; Longitudinal; Cohort
EGAS00001002236 Genetics of gene expression in human macrophage response to Salmonella Transcriptome Analysis
EGAS00000000109 Genetics of gene expression in primary human immune cells Genotype
phs000492.v1.p1 Genetics of human developmental brain disorders Probands; Mendelian; Family
phs000655.v1.p1 Genetics of Inherited Muscle Disease Probands; Mendelian; Family
EGAS00001000064 Genetics of Microcephalic Osteodysplatics Primordial Dwarfism Other
phs000389.v1.p1 GEnetics of Nephropathy - an International Effort (GENIE) GWAS of Diabetic Nephropathy in the UK GoKinD and All-Ireland Cohorts Case-Control
phs000448.v1.p1 Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort 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
EGAS00001001182 Genome Diversity in Africa Project ancient samples standard libraries Population Genomics
EGAS00001000397 Genome Landscape of High-Grade Serous Ovarian Cancer Other
EGAS00001000154 Genome Landscape of Primary Pancreatic Ductal Adenocarcinoma Other
EGAS00001000644 Genome of the Netherlands Other
phs000516.v1.p1 Genome Sequencing of Pancreatic Ductal Adenocarcinoma at The Human Genome Sequencing Center of Baylor College of Medicine (HGSC-BCM) Case Set
phs000445.v1.p1 Genome Variation among HIV-Resistant People with Hemophilia Case-Control
EGAS00001000599 Genome wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability Other
EGAS00001001354 Genome wide association data on male-pattern baldness Other
phs000355.v1.p1 Genome Wide Association for Asthma and Lung Function Case-Control
EGAS00000000108 Genome wide association scan in psoriasis Genotype
phs000621.v1.p1 Genome Wide Association Studies in ECOG 2903 Trial Clinical Trial
phs000346.v1.p1 Genome wide association study for Bladder Cancer Risk Case-Control; Cohort
phs000423.v1.p1 Genome wide association study for early onset coronary disease and related phenotypes (ADVANCE) Case-Control
EGAS00000000097 Genome wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP Genotype
EGAS00000000057 Genome wide association study of Coeliac Disease Genotype
phs000217.v1.p1 Genome wide association study of leprosy in Chinese population Case-Control
EGAS00001002147 Genome wide association study of prognosis in Crohn's disease Other
EGAS00001001130 Genome wide association study of response to warfarin in a UK prospective cohort Other
EGAS00000000087 Genome wide association study of severe malaria in Gambian mother-father-child trios GWAS
EGAS00000000088 Genome wide association study of severe malaria in Ghanain mother-farther-child trios GWAS
EGAS00001000734 Genome wide association study on coronary heart disease in patients with familial hypercholesterolemia Other
EGAS00001002248 Genome wide DNA methylation profiles by MeDIP-seq of cord blood cells and cord blood mononuclear cells obtained from twins conceived through in vitro fertilization and naturally conceived controls Other
EGAS00001001191 Genome wide DNA-methylation assessment by MethylCap-seq and Infinium HumanMethylation450 BeadChips: an independent large-scale comparison Other
EGAS00001002501 Genome wide expression profiles to compare array-based, RNAseq and NanoString technologies in patients with resected pancreatic ductal carcinoma. Other
EGAS00001002533 Genome wide genetic and epigenetic dataset of pancreatic acinar cell carcinomas Other
EGAS00001001394 Genome wide identification of distinct miRNA-mRNA target regulation pairs in Non-Hodgkin lymphomas: a report from the ICGC MMML-Seq consortium Other
EGAS00001000394 Genome wide mutation analysis of germinal-center B-cell derived lymphomas within the ICGC MMML-Seq Consortium Other
EGAS00001001020 Genome wide prediction of human embryos Other
EGAS00001001838 Genome wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing Other
EGAS00001002645 Genome wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors Other
EGAS00001000878 Genome wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity Other
EGAS00001001066 Genome wide SNP genotyping and DNA methylation epigenotyping of African rainforest hunter-gatherers and neighbouring agriculturalists Other
EGAS00001000605 Genome wide SNP genotyping of Central African rainforest hunter-gatherers and neighbouring agriculturalists Other
EGAS00001001311 Genome wide study of resistance to severe malaria in eleven worldwide populations Other
phs000239.v2.p1 Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis Case-Control; Monozygotic Twins
EGAS00001002324 Genome-to-genome analysis highlights the impact of the human innate and adaptive immune systems on the hepatitis C virus Other
phs000341.v1.p1 Genome-Wide Analysis of Hypodiploid Acute Lymphoblastic Leukemia Case Set; Tumor vs. Matched-Normal; Xenograft
phs000502.v1.p1 Genome-Wide Analysis of Splenic Marginal Zone Lymphoma Case-Control
phs000215.v1.p1 Genome-Wide Association Analysis of Serum Iron in the InCHIANTI and BLSA Population; Longitudinal
phs000375.v1.p1 Genome-Wide Association of Native and Post Aspirin Platelet Function Phenotypes Family; Cohort
phs000361.v1.p1 Genome-Wide Association Studies in Upper Gastrointestinal Cancers (Asian) Case-Control; Case Set; Cohort
phs000103.v1.p1 Genome-Wide Association Studies of Prematurity and Its Complications Nested Case-Control; Mother-Child Pairs
phs000353.v1.p1 Genome-Wide Association Studies of Prematurity and Its Complications (African American) Case-Control
phs000357.v1.p1 Genome-Wide Association Study in Systemic Sclerosis Case-Control
phs000344.v1.p1 Genome-Wide Association Study of Amyotrophic Lateral Sclerosis in Finland Case-Control
phs000383.v1.p1 Genome-Wide Association Study of Breast Cancer in the African Diaspora - the ROOT study Case-Control
phs000274.v1.p1 Genome-Wide Association Study of Celiac Disease Case-Control
phs000454.v1.p1 Genome-Wide Association Study of HIV-1 Host Genetics Among Injection Drug Users Case-Control
phs000618.v1.p1 Genome-Wide Association Study of Hypertriglyceridemia in Mexicans Case-Control
phs000196.v2.p1 Genome-Wide Association Study of Parkinson Disease: Genes and Environment Case-Control
phs000332.v1.p1 Genome-Wide Association Study of Preterm Birth Case-Control
phs000021.v3.p2 Genome-Wide Association Study of Schizophrenia Case-Control
phs000335.v2.p2 Genome-Wide associations of Lung Health Study (LHS) Longitudinal; Cohort
phs000550.v1.p1 Genome-Wide Characterization of Pancreatic Adenocarcinoma Patients Using Next Generation Sequencing Case Set
EGAS00001001387 Genomes of Relapsing Neuroblastoma Other
EGAS00000000104 Genomewide association studies in ankylosing spondylitis Genotype
phs000181.v1.p1 Genomewide Association Study of Alcohol Use and Alcohol Use Disorder in Australian Twin-Families (OZ-ALC GWAS) Twin; Family
EGAS00000000006 Genomewide Association Study of Inflammatory Bowel Disease GWAS
EGAS00000000007 Genomewide Association Study of Inflammatory Bowel Disease - Combined Controls GWAS
EGAS00001000249 Genomic Alterations in Gingivo-buccal Cancer: ICGC-India Project YR01 Other
EGAS00001001028 Genomic Alterations in Gingivo-buccal Cancer: ICGC-India Project YR02 Other
EGAS00001001952 Genomic Analyses Identify Recurrent MEF2D Fusions in Acute Lymphoblastic Leukemia Other
EGAS00001000941 Genomic analyses of gynecologic carcinosarcomas reveal frequent mutations in chromatin remodeling genes Other
EGAS00001001340 Genomic analysis of HPV positive versus HPV negative esophageal adenocarcinoma Other
phs000614.v1.p1 Genomic Analysis of Pediatric Low Grade Gliomas Case Set
EGAS00001000943 Genomic analysis of seminomas Other
EGAS00001000845 Genomic analysis of Smoothened inhibitor resistance in basal cell carcinoma Other
EGAS00001001540 Genomic analysis reveals novel secondary drivers and progression pathways in skin basal cell carcinoma Other
EGAS00001002511 Genomic and epigenomic characterization of juvenile myelomonocytic leukemia (JMML) Other
EGAS00001002175 Genomic and transcriptomic profiling of signalling networks in follicular lymphoma Other
EGAS00001000667 Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing Other
EGAS00001000750 Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. Other
EGAS00001001563 Genomic characterization of Malignant Pleural Mesothelioma. Other
phs000552.v1.p1 Genomic Characterization of Meningiomas Case Set
EGAS00001001934 Genomic characterization of NUT midline carcinoma Other
EGAS00001002390 Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes Other
EGAS00001001245 Genomic Epidemiology of Complex Diseases in Population-based Brazilian Cohorts Other
EGAS00001000855 Genomic landscape of Ewing sarcoma (ICGC project) Other
EGAS00001002202 Genomic Landscape of Pediatric Myelodysplastic Syndromes Other
EGAS00001002270 Genomic profiling of Acute Lymphoblastic Leukemia in Ataxia Telangiectasia patients reveals tight link between ATM mutations and chromothripsis Other
phs000488.v1.p1 Genomic Sequencing of Lung Adenocarcinoma Case Set
phs000504.v1.p1 Genomic Sequencing of Medulloblastoma Case Set
phs000508.v1.p1 Genomic Sequencing of Pediatric Rhaboid Cancers Case Set
phs000568.v1.p1 Genomic Sequencing of Solitary Fibrous Tumors Case Set
phs000390.v1.p1 Genomic Wide Scans for Female Osteoporosis Genes Cohort
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
EGAS00001001954 Genomics of enteropathy associated T cell lymphoma (EATL) Other
EGAS00001002543 Genomics-Driven Precision Medicine for Advanced Pancreatic Cancer - Early Results from the COMPASS Trial. Other
EGAS00001001585 Genotype and exome data for an Australian Aboriginal population: a reference panel for health-based research Other
EGAS00001001017 Genotype data of osteoarthritis cases from the UK collected by the arcOGEN Consortium (http://www.arcogen.org.uk/). Other
phs000268.v1.p1 Genotyping NIGMS CEPH Samples from the United States, Venezuela, and France Family
phs000269.v1.p1 Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples Cohort
EGAS00001000924 Genotyping of additional Inflammatory Bowel Disease cases 2014 Other
EGAS00000000033 Geographical structure and differential natural selection among North European populations Population
EGAS00001000447 Germline Aberrations of PAX5 Cause Susceptibility to pre-B cell Acute Lymphoblastic Leukemia Exome Sequencing
EGAS00001000721 Germline and somatic SMARCA4 mutations characterize small-cell carcinoma of the ovary, hypercalcemic type. Other
phs000661.v1.p1 Germline Sequencing for Aggressive Prostate Carcinoma Case Set
EGAS00001000957 Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X Other
EGAS00001001613 GILD ExomeSeq PTNHL Cancer Genomics
EGAS00001001054 GIST SSGXVIII trial targeted gene sequencing Cancer Genomics
EGAS00001001519 Glioblastoma CRISPR Screen Cancer Genomics
EGAS00001000202 Glioma cell lines rearrangement screen Cancer Genomics
EGAS00001002234 Global Anaplastic Thyroid Cancer Initiative Other
EGAS00001001459 GoT2D: Genetics of Type 2 Diabetes, a study of the the genetic architecture of type 2 diabetes using low pass whole genome sequencing and high density SNP genotyping in 2,657 individuals. Other
EGAS00001000091 Grey Platelet Syndrome GPS Other
EGAS00001001293 Growth Hormone (GH) -secreting Pituitary Adenoma Other
EGAS00001002276 GWAS data (Illumina 2.5 M SNPs) in Cuban cohorts of dengue disease Other
phs000138.v2.p1 GWAS for Genetic Determinants of Bone Fragility in European-American Premenopausal Women Quantitative Cross-Sectional
phs000517.v1.p1 GWAS in African Americans, Latinos and Japanese Case-Control
EGAS00001001090 GWAS of tuberculosis in Russia Other
EGAS00001001168 GWAS study on arsenic-exposed population Other
EGAS00001002505 H3K27ac and RNA-seq data of neuroblastoma PDXs and/or primary tumors Other
EGAS00001002496 H3K27ac ChIP-seq in TMPRSS2:ERG positive and negative prostate cancer tissue samples Other
EGAS00001000626 Haemoglobin E beta thalassaemia in a patient group from Sri Lanka Other
EGAS00001000468 Harnessing transposons for drug resistance gene discovery in cancer Cancer Genomics
phs000428.v1.p1 Health and Retirement Study (HRS) Longitudinal
EGAS00001000157 Hearing loss in adults from South Carolina Other
phs000640.v1.p1 HeLa Cell Genome Sequencing Studies Whole Genome Sequencing
EGAS00001000332 Helleday HRAS Project Cancer Genomics
phs000430.v1.p1 Hepatitis C Antiviral Long-term Treatment Against Cirrhosis (HALT-C) Randomized Controlled Clinical Trial
EGAS00001000042 HER2 positive Breast Cancer Cancer Genomics
EGAS00001001930 Hi-C dataset for testicular germ cell tumour GWAS risk loci, as described in the Oncoarray Litchfield et al. 2016 paper. Other
EGAS00001000973 High coverage target resequencing of coding and regulatory regions of 38 Parkinson's disease genes associated either to the Mendelian or the sporadic forms of the disease Other
phs000364.v1.p1 High density copy number analysis and whole exome sequencing of chronic lymphocytic leukemia Exome Sequencing; 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
phs000187.v1.p1 High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation Case-Control; Case Set
EGAS00001000660 High number of somatic mutations found in the healthy blood compartment of a 115-year-old woman reveals oligoclonal hematopoiesis Other
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
EGAS00001000674 High-throughput Detection of Clinically Relevant Mutations in Archived Tumor Samples By Multiplexed PCR and Next Generation Sequencing Other
phs000273.v1.p1 High-Throughput LINE-1 Retrotransposon Discovery in Humans Marker Discovery
EGAS00001002483 Hip OA Functional Genomics Transcriptome Analysis
EGAS00001001318 HipSci RNAseq Rare BBS Transcriptome Analysis
EGAS00001001137 HipSci RNAseq Rare Monogenic Diabetese Other
EGAS00001001974 HipSci Whole Exome sequencing Alport Other
EGAS00001001978 HipSci Whole Exome sequencing Ataxia Other
EGAS00001000969 HipSci Whole Exome sequencing Bardet Biedl Syndrome Other
EGAS00001001975 HipSci Whole Exome sequencing Battens Other
EGAS00001001976 HipSci Whole Exome sequencing BPD Other
EGAS00001001980 HipSci Whole Exome sequencing Cardiomyopathy Other
EGAS00001001977 HipSci Whole Exome sequencing Congenital hyperinsulinia Other
EGAS00001001979 HipSci Whole Exome sequencing HSP Other
EGAS00001001981 HipSci Whole Exome sequencing Kabuki Other
EGAS00001001982 HipSci Whole Exome sequencing Macular dystrophy Other
EGAS00001001140 HipSci Whole Exome sequencing Monogenic Diabetes Other
EGAS00001001983 HipSci Whole Exome sequencing PID Other
EGAS00001001984 HipSci Whole Exome sequencing Retinitis Pigmentosa Other
EGAS00001001985 HipSci Whole Exome sequencing Usher syndrome and congenital eye defects Other
EGAS00001001465 HipSci - Human Induced Pluripotent Stem Cells Initiative Other
EGAS00001001729 HipSci expression microarray for embryonic stem cell control lines Other
EGAS00001001730 HipSci genotyping microarray for embryonic stem cell control lines Other
EGAS00001002016 HipSci HumanExome BeadChip analysis - Battens disease Other
EGAS00001002009 HipSci HumanExome BeadChip analysis - Alport Syndrome Other
EGAS00001002013 HipSci HumanExome BeadChip analysis - Bleeding and Platelet disorders Other
EGAS00001002010 HipSci HumanExome BeadChip analysis - Congenital Hyperinsulinia Other
EGAS00001002005 HipSci HumanExome BeadChip analysis - Hereditary Cerebellar Ataxias Other
EGAS00001002006 HipSci HumanExome BeadChip analysis - Hereditary Spastic Paraplegia Other
EGAS00001002011 HipSci HumanExome BeadChip analysis - Hypertrophic Cardiomyopathy Other
EGAS00001002007 HipSci HumanExome BeadChip analysis - Kabuki syndrome Other
EGAS00001002014 HipSci HumanExome BeadChip analysis - Macular Dystrophy Other
EGAS00001001273 HipSci HumanExome BeadChip analysis - monogenic diabetes Other
EGAS00001002012 HipSci HumanExome BeadChip analysis - Primary immune deficiency Other
EGAS00001002015 HipSci HumanExome BeadChip analysis - Retinitis Pigmentosa Other
EGAS00001002008 HipSci HumanExome BeadChip analysis - Usher syndrome and congenital eye defects Other
EGAS00001000866 HipSci HumanExome BeadChip analysis-Healthy volunteers Other
EGAS00001001272 HipSci HumanExome BeadChip analysis-Rare BBS Other
EGAS00001002024 HipSci HumanHT 12 Expression BeadChip analysis - Alport syndrome Other
EGAS00001002031 HipSci HumanHT 12 Expression BeadChip analysis - Battens disease Other
EGAS00001002028 HipSci HumanHT 12 Expression BeadChip analysis - Bleeding and Platelet disorders Other
EGAS00001002025 HipSci HumanHT 12 Expression BeadChip analysis - Congenital Hyperinsulinia Other
EGAS00001002020 HipSci HumanHT 12 Expression BeadChip analysis - Hereditary Cerebellar Ataxias Other
EGAS00001002021 HipSci HumanHT 12 Expression BeadChip analysis - Hereditary Spastic Paraplegia Other
EGAS00001002026 HipSci HumanHT 12 Expression BeadChip analysis - Hypertrophic Cardiomyopathy Other
EGAS00001002022 HipSci HumanHT 12 Expression BeadChip analysis - Kabuki syndrome Other
EGAS00001002029 HipSci HumanHT 12 Expression BeadChip analysis - Macular Dystrophy Other
EGAS00001002027 HipSci HumanHT 12 Expression BeadChip analysis - Primary immune deficiency Other
EGAS00001002030 HipSci HumanHT 12 Expression BeadChip analysis - Retinitis Pigmentosa Other
EGAS00001002023 HipSci HumanHT 12 Expression BeadChip analysis - Usher syndrome and congenital eye defects Other
EGAS00001001277 HipSci HumanHT 12v4 Expression BeadChip analysis - monogenic diabetes Other
EGAS00001000867 HipSci HumanHT 12v4 Expression BeadChip analysis-Healthy volunteers Other
EGAS00001001276 HipSci HumanHT 12v4 Expression BeadChip analysis-Rare BBS Other
EGAS00001001275 HipSci Illumina 450K Methylation analysis - monogenic diabetes Other
EGAS00001000865 HipSci Illumina 450K Methylation analysis Healthy volunteers Other
EGAS00001001274 HipSci Illumina 450K Methylation analysis-Rare BBS Other
EGAS00001001728 HipSci Methylation analysis for embryonic stem cell control lines Other
EGAS00001001727 HipSci RNA sequencing for embryonic stem cell control lines Other
EGAS00001001986 HipSci RNASEQ Alport Transcriptome Analysis
EGAS00001001992 HipSci RNASEQ Ataxia Transcriptome Analysis
EGAS00001001993 HipSci RNASEQ BPD Transcriptome Analysis
EGAS00001001988 HipSci RNASEQ Congenital hyperinsulinia Transcriptome Analysis
EGAS00001001994 HipSci RNASEQ Hypertrophic Cardiomyopathy Transcriptome Analysis
EGAS00001001989 HipSci RNASEQ Kabuki Transcriptome Analysis
EGAS00001001995 HipSci RNASEQ Macular Dystrophy Transcriptome Analysis
EGAS00001001990 HipSci RNASEQ PID Transcriptome Analysis
EGAS00001001996 HipSci RNASEQ Retinitis Pigmentosa Transcriptome Analysis
EGAS00001001991 HipSci RNASEQ Spastic paraplegia Transcriptome Analysis
EGAS00001001997 HipSci RNASEQ Usher syndrome and congenital eye defects Other
EGAS00001001726 HipSci whole exome sequencing for embryonic stem cell control lines Other
EGAS00001000593 HipSci-RNAseq-healthy volunteers Transcriptome Analysis
EGAS00001000592 HipSci-Whole Exome sequencing-healthy volunteers Other
EGAS00001001709 Histological Transformation and Progression in Follicular Lymphoma: a Clonal Evolution Study Other
EGAS00001001943 Histone Acetylome-wide Association Study of Autism Spectrum Disorder Other
EGAS00001000597 HKU Gastric Cancer Genomics study - WGS, DNA genotyping array, expression and methylation profiling Other
EGAS00000000031 HLA has strongest association with IgA nephropathy in genome-wide analysis GWAS
EGAS00000000036 HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans GWAS
EGAS00001001606 Homozygous loss-of-function variants in European cosmopolitan and isolate populations Other
EGAS00001000077 Human Colorectal Cancer Exome Sequencing Other
EGAS00001000315 Human Evolution 3 Whole Genome Sequencing
EGAS00001000718 Human Evolution 3B Whole Genome Sequencing
EGAS00001001538 Human Evolution 3C Population Genomics
EGAS00001000992 Human melanoma samples with and without resistance to BRAF inhibitor therapy Other
phs000251.v1.p1 Human Microbiome Demonstration Project (UH2): Evaluation of the Cutaneous Microbiome in Psoriasis Case-Control
EGAS00001000841 HumanMethylation450K data from Purified Plasma Cells of Monoclonal gammopathy of unknown significance and Multiple myeloma patients and Healthy donors Other
phs000522.v1.p1 Hyperdiploid Acute Lymphoblastic Leukemia RNA-Seq Case Set
EGAS00001000104 Hyperfibrinolysis Other
phs000096.v4.p1 Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study - Maternal Glycemia and Birthweight GEI Study Prospective; Observational; Cohort
EGAS00001000565 Hypermutation of the inactive X chromosome is a frequent event in cancer Other
EGAS00001001129 IBDCA Edinburgh Other
EGAS00001000433 ICGC Benchmarking Exercise Whole Genome Sequencing
EGAS00001001195 ICGC Breast Cancer Project Other
EGAS00001000744 ICGC medulloblastoma whole genome sequencing data, ICGC release 16 Other
EGAS00001000559 ICGC Oesophageal Adenocarcinoma (pilot) - To deeply sequence tumour and normal genomic DNA (including the precursor condition Barretts esophagus when material is available) to provide a comprehensive catalogue of somatic mutations. Other
EGAS00001001692 ICGC PanCancer Analysis of Whole Genomes Cancer Genomics
EGAS00001000561 ICGC PedBrain DNA methylation sequencing Other
EGAS00001000215 ICGC PedBrain: Deep-sequencing of childhood brain tumors. Whole Genome Sequencing
EGAS00001000262 ICGC Prostate Cancer Whole Genome Sequencing Cancer Genomics
EGAS00001001836 Identification of 19 novel loci reveals gene regulatory mechanisms determining susceptibility to testicular germ cell tumour Other
EGAS00001000711 Identification of cardiovascular biomarkers through an integrative omics approach Transcriptome Analysis
EGAS00001000993 Identification of causal mutation in two patients with Sotos Syndrome Features Other
EGAS00000000056 Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts Population
EGAS00001001035 Identification of drug resistance genes in cancer cell lines by insertional mutagenesis Cancer Genomics
EGAS00001000617 Identification of drug resistance genes in melanoma Other
EGAS00001000815 Identification of drug resistance genes in melanoma by mRNA gene expression Transcriptome Analysis
EGAS00001000816 Identification of drug resistance genes in melanoma by small RNAs expression analysis Transcriptome Analysis
EGAS00001001302 Identification of four new susceptibility loci for testicular germ cell tumour, including variants near GAB2, GSPT1 and ZFPM1 Other
EGAS00001002228 Identification of fungal species in brain tissue from Alzheimer's disease Other
EGAS00001001706 Identification of gene mutations and fusion genes in patients with Sézary Syndrome Other
phs000514.v1.p1 Identification of Genes Involved in Familial Coronary Artery Disease Probands; Mendelian; Family
EGAS00000000099 Identification of genetic etiology of CAMRQ2 Genotype
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
EGAS00001000329 Identification of low frequency variants associated with ulcerative colitis using whole genome sequencing Whole Genome Sequencing
EGAS00001000453 Identification of mutations and structural rearrangements in plasma DNA form metastatic prostate cancer patients Resequencing
EGAS00001000659 Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data Other
EGAS00001000536 Identification of point mutations, expression perturbations, and gene fusions in T-cell acute lymphoblastic leukemia by RNA-seq Other
EGAS00001000620 Identification of rare variants associated with cardiovascular traits in Cilento isolates Other
phs000567.v1.p1 Identification of Recurrent NAB2-STAT6 Gene Fusions in Solitary Fibrous Tumor by Integrative Sequencing Case Set
phs000602.v1.p1 Identification of Targetable FGFR Gene Fusions in Diverse Cancers Case Set
EGAS00001000269 Identification of the underlying causal variant in a multi generational family with autosomal dominant common variable immunodeficiency Other
EGAS00001000023 Identifying autosomal recessive mutations causing neurological disorders Other
EGAS00001000054 Identifying causative mutations for Thrombocytopenia with Absent Radii Other
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
EGAS00001001604 Identifying new diagnostic and treatment pathways for patients with unclassifiable sarcomas Cancer Genomics
EGAS00001000220 Identifying Novel Fusion Genes in Myeloma Cancer Genomics
phs000431.v1.p1 IgA Nephropathy GWAS (IGANGWAS) Case-Control
EGAS00001001937 IHEC DEEP Release August 2016 Other
EGAS00001000630 Illumina ExomeChip genotyping data from the Cretan Greek isolate collection HELIC MANOLIS Other
EGAS00001002598 Illumina HiSeqX and HiSeq 2000 whole genome sequence data on 3,001 ALS samples including 212 with known C9orf72 repeat expansions Other
EGAS00001002593 Illumina HiSeqX whole genome sequence data on 58 Huntington samples with known triplet repeat expansions Other
EGAS00001000687 Illumina Human OmniExpress genotyping data from the Cretan Greek isolate collection HELIC MANOLIS Other
EGAS00001001733 Illumina HumanCoreExome 12v1 1 A chip typing in a Greek adolescent population Population Genomics
EGAS00001001206 Illumina HumanCoreExome genotyping data from the British Society for Surgery of the Hand Genetics of Dupuytren's Disease consortium (BSSH-GODD consortium) collection Other
EGAS00001001001 Illumina HumanCoreExome genotyping data from the TEENAGE (TEENs of Attica: Genes and Environment) study. Other
EGAS00001000996 Illumina HumanOmniExpress genotyping data from the TEENAGE (TEENs of Attica: Genes and Environment) study. Other
EGAS00001001940 Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation Other
EGAS00001000807 Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations Other
EGAS00001001971 In Situ Transcription whole genome sequencing Cancer Genomics
EGAS00001001892 Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma - 30 whole exomes Other
EGAS00001001353 Independent development of lymphoid and histiocytic malignancies from a shared early precursor Other
EGAS00001002246 Indonesian sea-nomads genomic history Other
EGAS00001001288 Induced Pluripotent Cells Derived from Differentiated Rod Photoreceptors Undergo Efficient Retinogenesis in Three-Dimensional Cultures Other
EGAS00001001754 Inferring expressed genes by whole-genome sequencing of plasma DNA Other
EGAS00001000337 Inferring tumor genomes from peripheral blood i.e. CTCs and plasma-DNA using deep sequencing and targeted enrichment Cancer Genomics
EGAS00001001461 Inherited damaging mutations in immune-related genes favour the development of genetically heterogeneous synchronous colorectal cancer. Other
EGAS00001001184 Institut Curie Neuroblastoma Whole Genome Sequencing Diagnosis Relapse Other
EGAS00001001659 Integrated clinical, whole genome, and transcriptome analysis of multisampled lethal metastatic prostate cancer Other
EGAS00001000884 Integrated genetic and epigenetic analysis defines novel molecular clusters in rhabdomyosarcoma Other
EGAS00001000369 Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma Other
EGAS00001000399 Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma. Whole Genome Sequencing
EGAS00001001306 Integrated Genomic Analysis of Chronic Lymphocytic Leukaemia Other
EGAS00001000665 Integrated genomic characterization of adrenocortical carcinoma Other
EGAS00001001588 Integrated genomic characterization of IDH1 mutant Glioma malignant progression Other
EGAS00001001067 Integrated genomic, transcriptional and epigenomic analyses in germinal center-cell lymphomas link the mutation landscape with differential DNA methylation in Burkitt lymphoma Other
EGAS00001001296 Integrated molecular analysis of adult T-cell leukemia/lymphoma Other
EGAS00001001897 Integrated Molecular Profilting in Advanced Cancers Trial Other
EGAS00001001846 Integration of genomics and histology reveals diagnosis and effective therapy of refractory cancer of unknown primary with PDL1 amplification (H021) Other
EGAS00001000299 Integrative analysis of small cell lung cancer Other
EGAS00001002271 Integrative analysis of whole genome sequencing, RNA sequencing and methylome array of 20 carcinosarcomas. Other
EGAS00001000858 Integrative genome profiling in AML Cancer Genomics
EGAS00001000400 Integrative genomic analyses reveal androgen-driven somatic alteration landscape in early-onset prostate cancer Other
EGAS00001000679 Integrative genomic profiling of hepatocellular adenomas reveals recurrent FRK activating mutations and mutational processes of malignant transformation Other
EGAS00001000036 Integrative Oncogenomics of Multiple Myeloma Cancer Genomics
EGAS00001000243 Integrative Oncogenomics of multiple myeloma Other
EGAS00001000244 Integrative Oncogenomics of multiple myeloma Other
EGAS00001000526 Integrative sequencing reveals alterations in untreated and castration resistant prostate cancer Other
EGAS00001002150 Inter and intra - tumor heterogeneity in Colorectal Cancer Other
EGAS00001001804 Interactions between the tumor and the systemic response of breast cancer patients Other
phs000216.v1.p1 International Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN) Case-Control
phs000094.v1.p1 International Consortium to Identify Genes and Interactions Controlling Oral Clefts Case Set; Parent-Offspring Trios
phs000407.v1.p1 International Multi-Center ADHD Gene Project (IMAGE) II Case Sample Case Set
phs000016.v2.p2 International Multi-Center ADHD Genetics Project Parent-Offspring Trios
phs000139.v1.p1 International Multiple Sclerosis Genomics Consortium (IMSGC) Genome Wide Association Study of Multiple Sclerosis Parent-Offspring Trios
phs000205.v4.p2 International Standards for Cytogenomic Arrays Array Comparative Genomic Hybridization
EGAS00001001244 Intra-tumor heterogeneity and clonal evolution patterns towards platinum-resistant high-grade serous ovarian cancer Other
EGAS00001000930 Intra-tumor heterogeneity of localized lung adenocarcinomas defined by multi-region sequencing Other
EGAS00001001880 Intra-tumoral heterogeneity in glioblastoma for optimal targeted therapeutic interventions Other
EGAS00001001135 Intratumor heterogeneity evaluation in primary HCC cells Other
EGAS00001001881 Investigating genetic susceptibility to rheumatic heart disease in Oceania Other
EGAS00001000050 Investigating low frequency variants in CAD MI cases controls and pedigrees using whole exome sequencing and custom pulldowns Other
EGAS00001000043 Investigating low frequency variants in CAD MI cases controls and pedigrees using whole exome sequencing and custom pulldowns Other
EGAS00001000053 Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP) Other
phs000102.v1.p1 Ischemic Stroke Genetics Study (ISGS) Case-Control
EGAS00001000936 Ischemic stroke in a Swedish case-control study. Other
EGAS00001002634 Isotype resolved sequencing of B cell receptor in health and disease Transcriptome Analysis
phs000444.v1.p1 Italian Primary Biliary Cirrhosis Study Case-Control
EGAS00001002170 Scalable whole-genome single-cell library preparation without pre-amplification Other
EGAS00001001324 JMML targeted sequencing (2013) Other
EGAS00001000032 Kaposi sarcoma exome Cancer Genomics
EGAS00001002568 KLB mutations in congenital hypogonadotropic hypogonadism Other
EGAS00001001899 Knee OA Functional Genomics Transcriptome Analysis
EGAS00001001774 Korea Epigenome Project(KEP), Korea National Research Institute of Health(KNIH) Other
EGAS00001001711 Korean Young Age Diffuse Gastric Cancers Other
EGAS00000000114 Krakow experiment - Northern Finland Birth Cohort 1966 Population
EGAS00001000546 Landscape of gene mutations in Down syndrome-related myeloid disorders Other
EGAS00001000510 Landscape of somatic mutations and clonal evolution in mantle cell lymphoma Whole Genome Sequencing
EGAS00001001666 Large scale familial CRC exome sequencing study Other
EGAS00001002085 Lebanon HighCov seq Whole Genome Sequencing
EGAS00001002084 Lebanon LowCov seq Whole Genome Sequencing
EGAS00001001158 Leeds Melanoma Cohort Cancer Genomics
EGAS00001000627 Leiden melanomafamilies Whole Genome Sequencing
EGAS00001001024 Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients Other
EGAS00001000061 Lethal malformation syndrome Other
EGAS00001001251 Leucocyte eQTLs in autoimmune disease and health Other
EGAS00001002300 LICA-CN project - 116 liver cancer cases Other
EGAS00001001704 LifeLines-DEEP population multi-omix cohort from the noth of the Netherlands. Other
EGAS00001001911 Lineage-specific genome architecture links disease variants to target genes Other
EGAS00001000085 Linking genes, genomic instability and molecular subgroups in medulloblastoma Whole Genome Sequencing
EGAS00001002518 Linking the epigenetic landscape in chronic lymphocytic leukemia to deregulated chromatin networks Other
EGAS00001000720 Location specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M. Other
EGAS00001002168 Longitudinal analysis of treatment induced genomic alterations in gliomas Other
EGAS00001001763 Longitudinal RNA-seq (whole blood) in a twin cohort Other
EGAS00001000875 Loss of functional mutation in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan Anemia Other
EGAS00001000768 Low Coverage Sequencing of rare human histiocytic tumour Cancer Genomics
EGAS00001000392 Low coverage whole genome sequencing of samples from the Cretan Greek isolate collection HELIC MANOLIS Whole Genome Sequencing
EGAS00001001597 Low depth whole genome sequencing across multiple isolated populations Whole Genome Sequencing
EGAS00001001856 Low input LC ISC Cancer Genomics
EGAS00001000148 Lung Cancer Whole Genomes Cancer Genomics
EGAS00001000436 Lung Multi site Targeted Sequence Capture Cancer Genomics
EGAS00001000289 Lung Plasma rearrangement screen Cancer Genomics
EGAS00001000837 Lung Progression versus Regression Whole Genome Sequencing Cancer Genomics
EGAS00001000005 Lung Rearrangement Study Cancer Genomics
EGAS00001000564 Lymphocyte RNA profiling Transcriptome Analysis
phs000020.v2.p1 Major Depression: Stage 1 Genomewide Association in Population-Based Samples Case-Control
EGAS00000000026 MalariaGEN case-control study in the Gambia GWAS
EGAS00001001601 Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes Other
EGAS00001001170 Mammalian recursive splicing enables a promoter-dependent splicing switch Other
EGAS00001002333 Mapping and phasing of structural variation in patient genomes using nanopore sequencing Other
phs000604.v1.p1 Mapping Genes for Mammographic Density Population
EGAS00001001149 Mapping regulatory variation in sensory neurons using IPS lines from the HIPSCI project Gene Regulation Study
EGAS00000000029 Massive Genomic Rearrangment Acquired in a Single Catastrophic Event During Cancer Development Whole Genome Sequencing
EGAS00001002320 Massively parallel nanowell-based single-cell gene expression profiling Other
EGAS00001000031 Matched breast cancer fusion gene study Cancer Genomics
EGAS00001000155 Matched Ovarian Cancer Sequencing Cancer Genomics
EGAS00001000160 Matched Pair Cancer Cell line Whole Genomes Cancer Genomics
EGAS00001000434 Matched Pair Cell Line Tumour RNAseq Cancer Genomics
phs000048.v1.p1 Mayo-Perlegen LEAPS (Linked Efforts to Accelerate Parkinson's Solutions) Collaboration Case-Control
EGAS00001000995 McGill Epigenomics Mapping Centre Epigenetics
EGAS00001001011 MDS Sequencing Project Cancer Cell Other
EGAS00001000703 MDS Sequential Treatment Validation Cancer Genomics
EGAS00001000034 MDSMPN Rearrangement Screen Cancer Genomics
EGAS00001000600 Measuring the level of relatedness between NGS datasets Other
EGAS00001000946 Mechanisms of patient response to Dabrafenib in Melanoma Cancer Genomics
EGAS00001001615 MED12L Gene Alterations Define Aggressive BRCA2-Mutant Prostate Cancers Other
EGAS00001002107 Melanoma brain metastases Cancer Genomics
EGAS00001001614 Melanoma C32 ENU resistance to Combination Therapy Cancer Genomics
EGAS00001001697 Melanoma C32 ENU Resistance to Single Agent Therapy Cancer Genomics
phs000452.v1.p1 Melanoma Genome Sequencing Project Case Set
EGAS00001000216 Melanoma TIL Study Exomes Other
EGAS00001000251 Melanoma Til Study RNAseq Cancer Genomics
EGAS00001000177 Meningioma Exome Cancer Genomics
EGAS00001000282 Meningioma Targeted Sequencing Study Cancer Genomics
EGAS00001001926 Mesenchymal inflammation drives genotoxic stress in hematopoietic stem cells and predicts disease evolution in human pre-leukemia Other
EGAS00001002299 Mesothelioma Genomics Study - WGS tumour/normal pairs Other
EGAS00001000830 Mesothelioma Whole Genomes Cancer Genomics
EGAS00001002123 Meta-analysis of Genome-Wide-Association Sudies for plasma Factor XI Other
phs000561.v1.p1 Metabolism and Genetics of Hypobetalipoproteinemia Probands; Mendelian; Family
EGAS00000000098 METABRIC Genotype/Expression array/H&E staines images
EGAS00000000083 METABRIC Genotype/Expression
EGAS00000000122 METABRIC miRNA landscape Genotype/Expression
EGAS00001001753 METABRIC: Data from Pereira et al (2016), The somatic mutation profiles of 2433 breast cancers refine their genomic and transcriptomic landscapes. Nat Comms 7. Other
phs000257.v2.p1 Metagenomic Analysis of the Structure and Function of the Human Gut Microbiota in Crohn's Disease Twin
phs000263.v1.p1 Metagenomic study of the human skin microbiome associated with acne Case-Control
EGAS00001000704 Metastatic breast cancer targeted gene screen Cancer Genomics
EGAS00001001968 Metastatic Breast Cancer Validation Cancer Genomics
EGAS00001000902 Metastatic Breast Cancer Whole Genome Cancer Genomics
EGAS00001000730 Metastatic Prostate Follow Up Cancer Genomics
EGAS00001000756 Metastatic Prostate Follow Up 2 Cancer Genomics
phs000637.v1.p1 Methotrexate Clearance GWAS in Acute Lymphoblastic Leukemia (ALL) Patients Cohort
EGAS00001001180 Methylation changes in OA patients with chronic exposure to cobalt and chromium Population Genomics
EGAS00001001051 Methylation differences in trisomy 21 using monozygotic twins Other
EGAS00001002161 Methylation of Ewing sarcoma tumors (ICGC) Other
EGAS00001001133 mFAST-SeqS Other
EGAS00001001924 MIBS MGS Other
EGAS00001001253 Microinjection of hIPSC derived intestinal organoids with Salmonella Typhimurium Transcriptome Analysis
EGAS00001000652 Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia. Other
EGAS00001001199 MINCR is a MYC-induced lncRNA able to modulate MYC's transcriptional network in Burkitt lymphoma cells Other
EGAS00001001127 MiR expression profiles of paired primary colorectal cancer and metastases by next-generation sequencing Other
EGAS00001000691 miRNA expression in response to LPS stimulus in macrophages Transcriptome Analysis
EGAS00001001782 Mitochondrial-Nuclear Mutational Cross-Talk Drives Recurrence of Localized Prostate Cancer Other
EGAS00001000180 Mixed Leukemia Rearrangement Screen Cancer Genomics
EGAS00001001951 Molecular analysis of circulating tumour cells identifies distinct profiles in chemosensitive and chemorefractory patients with small cell lung cancer Other
EGAS00001000292 Molecular characterization of invasive lobular carcinoma Cancer Genomics
phs000476.v1.p1 Molecular defects in pseudohypoparathyroidism or related disorders Probands; Mendelian; Family
EGAS00001001896 Molecular dissection of germline chromothripsis in a developmental context Other
phs000484.v1.p1 Molecular genetic analysis of inherited kidney dysfunction Probands; Mendelian; Family
phs000455.v1.p1 Molecular Genetic Studies of Developmental Brain Disorders Cohort
phs000167.v1.p1 Molecular Genetics of Schizophrenia - nonGAIN Sample (MGS nonGAIN) Case-Control
EGAS00000000102 Molecular Phenotyping to Accelerate Genomic Epidemiology (MolPAGE) Genotype
EGAS00000000116 Molecular Sub-grouping of CNS-PNET Genotype/Expression array
EGAS00001002376 Molecular Subtype-specific Biomarkers Improves Colorectal Cancer Prognostication Other
EGAS00001000165 Monotherapy Breast Cancer Cancer Genomics
EGAS00001000613 Mosaic Colorectal Metastasis Cancer Genomics
EGAS00001002301 Most HCCs in Taiwan show the mutational signature of aristolochic acid Other
EGAS00001000663 MPN mutation order followup Cancer Genomics
EGAS00001000765 MPN TGS2 Follow up PT1 Vori other Cancer Genomics
EGAS00000000137 MRCA and MRCE SNP genotypes Genotype
phs000209.v10.p2 Multi-Ethnic Study of Atherosclerosis (MESA) Cohort Longitudinal; Family
EGAS00001001738 Multi-layered population structure in Island Southeast Asians Other
EGAS00001000933 Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas Other
EGAS00001001871 Multi-omics analysis of primary glioblastoma cell-lines shows recapitulation of pivotal molecular features of parental tumors Other
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
EGAS00001000004 Multifocal Breast Project Cancer Genomics
EGAS00001000333 Multiple Malignancy Familial Comparison Cancer Genomics
EGAS00001001299 Multiple Myeloma Diagnosis to Relapse study samples Cancer Genomics
EGAS00001000891 Multisite Primary Breast Cancer Cancer Genomics
EGAS00001001845 Mutant KIT as imatinib-sensitive target in metastatic sinonasal carcinoma (H021) Other
EGAS00001000359 Mutation analysis in human iPS cells Resequencing
EGAS00000000040 Mutation of FOXL2 in granulosa cell tumors of the ovary Whole Genome Sequencing
EGAS00001001171 Mutational Analysis of Colorectal PDX models Cancer Genomics
EGAS00001000579 Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma Exome Sequencing
EGAS00001000641 Mutational context and diverse clonal development in early and late bladder cancer Other
EGAS00000000054 Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution Whole Genome Sequencing
EGAS00001000046 Mutational Screening of Human Acute Myleloid Leukaemia Samples Other
EGAS00001002490 Mutational signatures of aflatoxin Other
EGAS00001000651 Mutational Signatures of relapse in rectal cancer FFPE samples in the CR07 clinical trial Cancer Genomics
EGAS00001002630 Mutational spectrum of highly differentiated, fusion-negative rhabdomyosarcoma. Other
EGAS00001002450 Mutations in SPINK2 induce azoospermia Other
EGAS00001000906 Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors Other
EGAS00001000212 MuTHER adipose tissue small RNA expression Transcriptome Analysis
EGAS00001002115 MYC drives progression of small cell lung cancer to a variant neuroendocrine subtype with vulnerability to Aurora kinase inhibition Other
EGAS00001000772 MYD88/TLR mutations in CLL Other
EGAS00001000716 Myelodysplastic cells in patients re-program mesenchymal stromal cells to establish a transplantable stem cell-niche disease unit. Other
EGAS00001000089 Myelodysplastic Syndrome Exome Sequnecing Other
EGAS00001000224 Myelodysplastic Syndrome Follow Up Series Cancer Genomics
EGAS00001000291 Myelodysplastic syndrome whole genomes Cancer Genomics
EGAS00001000743 Myeloma Follow up Pilot Cancer Genomics
EGAS00001000880 Myeloma Targeted Follow up Study Cancer Genomics
EGAS00001000290 Myeloproliferative Disease Whole Genomes Cancer Genomics
EGAS00001000198 Myeloproliferative Disorder Sequencing Cancer Genomics
EGAS00001000199 Myeloproliferative Disorder Sequencing Cancer Genomics
EGAS00001000404 Myeloproliferative Neoplasms MPN Exome Validation Study Cancer Genomics
EGAS00001000406 Myeloproliferative Neoplasms MPN Targeted Gene Screen Cancer Genomics
phs000218.v5.p1 National Cancer Institute (NCI) TARGET: Therapeutically Applicable Research to Generate Effective Treatments Cohort
phs000235.v3.p1 National Cancer Institute Cancer Genome Characterization Initiative (CGCI) Tumor vs. Matched-Normal
phs000351.v1.p1 National Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma Cohort; Case-Control
phs000001.v3.p1 National Eye Institute (NEI) Age-Related Eye Disease Study (AREDS) Case-Control
phs000240.v1.p1 National Eye Institute (NEI) Ocular Hypertension Treatment Study (OHTS) Clinical Trial
phs000238.v1.p1 National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) Consortium Glaucoma Genome-Wide Association Study Case-Control
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
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
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
phs000479.v1.p1 National Heart Lung and Blood Institute Exome sequencing in SCID Parent-Offspring Trios
phs000571.v1.p1 National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC) Cohort; Parent-Offspring Trios
phs000166.v2.p1 National Heart, Lung, and Blood Institute SNP Health Association Asthma Resource Project (SHARP) Longitudinal; Parent-Offspring Trios; Case-Control
phs000289.v2.p1 National Human Genome Research Institute (NHGRI) GENEVA Genome-Wide Association Study of Venous Thrombosis (GWAS of VTE) Case-Control
phs000144.v1.p1 National Human Genome Research Institute Tumor Sequencing Project (TSP) - Lung Adenocarcinoma Tumor vs. Matched-Normal
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
phs000524.v1.p1 National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Chronic Renal Insufficiency Cohort Study (CRIC) Cohort
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
phs000004.v1.p1 National Institute of Neurological Disorders and Stroke (NINDS) Repository Neurologically Normal Control Collection Control Set
phs000003.v1.p1 National Institute of Neurological Disorders and Stroke (NINDS) Repository Parkinson's Disease Collection Case Set
phs000160.v1.p1 National Institute on Aging (NIA) Late-Onset Alzheimer's Disease Genetics Initiative: The Multiplex Family Study Family; Control Set
phs000397.v1.p1 National Institute on Aging (NIA) Long Life Family Study (LLFS) Family
phs000338.v1.p1 National Institute on Aging (NIA) SardiNIA Study Family; Population
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
phs000178.v6.p6 National Institutes of Health The Cancer Genome Atlas (TCGA) Tumor vs. Matched-Normal
EGAS00001001802 Native American Ancient DNA sequencing Whole Genome Sequencing
EGAS00001002454 Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy Other
EGAS00001000476 Negligible impact on missing heritability of autoimmune-locus rare coding-region variants Resequencing
EGAS00001000428 Neoadjuvant Breast Cancer Validations Cancer Genomics
phs000124.v2.p1 Neuroblastoma Genome-Wide Association Study (NBL-GWAS) Case-Control
EGAS00001001183 Neuroblastoma relapse trio series from the AMC Other
EGAS00001001632 New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs Other
phs000434.v1.p1 Next Generation Mendelian Genetics: Atypical Werner Syndrome Case Set
phs000539.v1.p1 Next Generation Mendelian Genetics: Congenital Hyperinsulinism Case Set
phs000540.v1.p1 Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII Case-Control
phs000538.v1.p1 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia Family
phs000537.v1.p1 Next Generation Mendelian Genetics: Familial Hemophagocytic Lymphohistiocytosis Cohort
phs000295.v1.p1 Next Generation Mendelian Genetics: Kabuki Syndrome Exome Sequencing
phs000405.v1.p1 Next Generation Mendelian Genetics: Malignant Hyperthermia Case Set
phs000541.v1.p1 Next Generation Mendelian Genetics: Muscle Hypertrophy Case Set; Family
phs000542.v1.p1 Next Generation Mendelian Genetics: Neonatal Diabetes Case Set
EGAS00001000767 Next generation sequencing of sporadic schwannomatosis samples Other
EGAS00001000737 Next-Generation Sequencing of RNA and DNA Isolated from Paired Fresh-Frozen and Formalin-Fixed Paraffin-Embedded Samples of Human Cancer and Normal Tissue Other
EGAS00001001095 NGS based viability screening using haploid cell line Cancer Genomics
phs000451.v1.p1 NHLBI and NIA The New England Centenarian Study (NECS) Case Set
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
phs000280.v1.p1 NHLBI Atherosclerosis Risk in Communities (ARIC) Candidate Gene Association Resource (CARe) Case-Cohort
phs000284.v1.p1 NHLBI Cleveland Family Study (CFS) Candidate Gene Association Resource (CARe) Longitudinal
phs000285.v2.p2 NHLBI Coronary Artery Risk Development in Young Adults (CARDIA) Candidate Gene Association Resource (CARe) Longitudinal
phs000221.v1.p1 NHLBI Family Heart Study (FamHS-Visit1 and FamHS-Visit2) Family; Longitudinal
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
phs000354.v1.p1 NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension Longitudinal; Family; Exome Sequencing
phs000279.v1.p1 NHLBI GO-ESP: Early-Onset Myocardial Infarction (Broad EOMI) Longitudinal; Case-Control; Exome Sequencing
phs000581.v1.p1 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy) Case Set
phs000362.v1.p1 NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation) Cohort
phs000582.v1.p1 NHLBI GO-ESP: Family Studies (Familial Interstitial Pneumonia) Family
phs000556.v1.p1 NHLBI GO-ESP: Family Studies (JHMI-Molecular Genetics of Atypical Cystic Fibrosis (CF) Study) Case-Control; Family
phs000347.v1.p1 NHLBI GO-ESP: Family Studies (Thoracic aortic aneurysms leading to acute aortic dissections) Cohort; Exome Sequencing
phs000546.v1.p1 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (Ischemic Stroke Genetic Study, ISGS) Case-Control
phs000327.v1.p1 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (Siblings with Ischemic Stroke Study, SWISS) Affected Sib Pairs; Exome Sequencing
phs000422.v1.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma): Genetic variants affecting susceptibility and severity Case Set
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
phs000291.v2.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Lung Health Study of Chronic Obstructive Pulmonary Disease) Longitudinal; Exome Sequencing
phs000290.v1.p1 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Pulmonary Arterial Hypertension) Case-Control; Exome Sequencing
phs000286.v2.p1 NHLBI Jackson Heart Study Candidate Gene Association Resource (CARe) Cohort
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
phs000130.v1.p1 NIDDK IBD Genetics Consortium Crohn's Disease Genome-Wide Association Study Case-Control
phs000345.v1.p1 NIDDK IBD Genetics Consortium Ulcerative Colitis Genome-Wide Association Study Case-Control
phs000367.v1.p1 NIDDK⁄CIDR Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease Family
phs000101.v3.p1 NIH Genome-Wide Association Studies of Amyotrophic Lateral Sclerosis Case-Control; Case Set
phs000228.v3.p1 NIH Human Microbiome Project - Core Microbiome Sampling Protocol A (HMP-A) Population-Based Control Set
phs000089.v3.p2 NINDS-Genome-Wide Genotyping in Parkinson's Disease: First Stage Analysis and Public Release of Data Case-Control
EGAS00001000205 Non Tumour Renal Cell Line Sequencing Cancer Genomics
EGAS00001002211 Non-Invasive Cancer Diagnosis and Tissue-of-Origin Prediction Using Methylation Profiles of Cell-Free DNA Other
phs000500.v1.p1 Non-invasive whole genome sequencing of a human fetus Parent-Offspring Trios
EGAS00001000566 Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing Other
EGAS00001000439 Noninvasive prenatal molecular karyotyping from maternal plasma Resequencing
EGAS00000000030 Nordic Samples on build 36 Population
EGAS00001000909 Normal brain controls for ICGC PedBrain DNA methylation sequencing Other
EGAS00001000723 NORMALS - 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. - This study contains the Normal tissue samples. Other
EGAS00001002110 North American Brain Expression Consortium (NABEC) Exome Sequencing Other
phs000237.v1.p1 Northwestern NUgene Project: Type 2 Diabetes Case-Control
EGAS00001001960 Novel CNV contribution to schizophrenia from a genome wide study of 41,321 subjects Other
EGAS00001001386 Novel genes for Intellectual Disability identified using whole genome sequence and pathway analysis Other
EGAS00001001732 Novel mutational mechanisms and drivers in Pancreatic Neuroendocrine Tumours Other
EGAS00001001910 Novel regional age-associated DNA methylation changes within human common disease-associated loci Other
EGAS00000000134 NOWAC blood-based breast cancer case-control study Expression array/Phenotype
EGAS00001001740 Nrf2 transcript alterations Other
EGAS00001001382 OCCAMS Oesophageal Cancer Organoids 1 Cancer Genomics
phs000202.v1.p1 OMRF SLEGEN GWAS Data from European-American Women with Lupus Case-Control
EGAS00001002197 Oncogenic gene fusions in primary colon cancers Other
EGAS00001000068 ORCADES WGA Whole Genome Sequencing
EGAS00001000968 Origins and functional consequence of somatic mitochondrial DNA mutations Other
EGAS00001002528 Orthotopic Patient-Derived Xenografts of Pediatric Solid Tumors Other
EGAS00001000163 Osteosarcoma Exome Sequencing Cancer Genomics
EGAS00001000615 Osteosarcoma RNAseq Cancer Genomics
EGAS00001000013 Osteosarcoma Sequencing Cancer Genomics
EGAS00001000278 Osteosarcoma Targeted Sequencing Study Cancer Genomics
EGAS00001000147 Osteosarcoma Whole Genome Cancer Genomics
EGAS00001000330 Osteosarcoma whole genome rearrangement screen Cancer Genomics
EGAS00001000156 Otosclerosis gene discovery Other
EGAS00001000384 Oulu Dyslipidemia families Other
EGAS00001000305 P647 Targeted resequencing project Whole Genome Sequencing
EGAS00001001713 PAGE Prenatal Assessment of Genomes and Exomes Other
EGAS00001001686 Paired exome analysis in urothelial carcinoma Other
EGAS00001000343 Pancreatic Cancer Sequencing Initiative Exome Sequencing
EGAS00001000395 Pancreatic Cancer Sequencing Initiative OICR Cancer Genomics
EGAS00001001247 Papuan Genomes: whole genome sequencing Whole Genome Sequencing
EGAS00001001587 Papuan Genotyping Population Genomics
EGAS00001000048 Paroxysmal neurological disorders Other
EGAS00001000386 Paroxysmal neurological Disorders Other
EGAS00001000421 Paroxysmal Neurological Disorders rare epilepsies Other
EGAS00001000190 Paroxysmal Neurological Disorders 2 Other
EGAS00001000052 PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis. Other
EGAS00001000446 Passive and active DNA methylation and the interplay with genetic variation in gene regulation Population Genomics
EGAS00001001702 Patient-derived conditionally reprogrammed cells (CRCs) were established and characterized to assess their biological properties and to apply these to test the efficacies of drugs. Other
EGAS00001002114 Patients with metastatic urothelial carcinoma Other
EGAS00001000654 PCGP Ph-like ALL Other
EGAS00001002462 PCR-free HiSeqX whole genome sequence data on 128 samples with known pathogenic variants (triplet repeats and SMA) Other
phs000650.v1.p1 Pediatric Investigation of Genetic Factors Linked with Renal Progression (PediGFR): Chronic Kidney Disease in Children Cohort (CKiD) Cohort
EGAS00001002183 Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia is Characterized by Distinct Genomic Subsets with Varying Outcomes Other
EGAS00001001623 Pediatric Whole Genome Sequencing Diagnostic Utility Other
EGAS00001000622 Pharmacological and genomic profiling identifies NFκB-targeted treatment strategies for mantle cell lymphoma Other
phs000548.v1.p1 Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin Cohort
EGAS00001001213 Pilot experiment on functional genomics in osteoarthritis Population Genomics
EGAS00001001212 Pilot experiment on functional genomics in osteoarthritis Population Genomics
EGAS00001001203 Pilot experiment on functional genomics in osteoarthritis RNA Transcriptome Analysis
EGAS00001000024 Piloting exome resequencing in consanguineous families with homozygosity mapping intervals Other
EGAS00001000962 Plasma DNA aberrations in systemic lupus erythematosus revealed by genomic and methylomic sequencing Other
EGAS00001000731 Plasma RNA sequencing Other
EGAS00001000451 Plasma-Seq of patients with metastatic prostate cancer Other
EGAS00001000105 Platelet collagen defect Other
EGAS00001001281 PLCG1 R707Q mutation is counter selected under targeted therapy in a patient with a hepatic angiosarcoma Other
EGAS00001000612 PLCRC study Cancer Genomics
EGAS00001000175 PMF Exome Study Cancer Genomics
EGAS00001000250 Poikiloderma syndrome RNAseq Cancer Genomics
EGAS00001002337 Poly(A) RNA sequencing of hepatocellular carcinoma tumors and their matched noncancerous liver tissues Other
phs000368.v1.p1 Polycystic Ovary Syndrome (PCOS) Genetics Case-Control
phs000145.v2.p2 POPRES: Population Reference Sample Population; Control Set
phs000356.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE) Cross-Sectional; Longitudinal; Nested Case-Control
phs000223.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Atherosclerosis Risk in Communities (ARIC) 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
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
phs000220.v1.p1 Population Architecture using Genomics and Epidemiology (PAGE): Multiethnic Cohort (MEC) Cohort; Nested Case-Control
EGAS00001001663 Population Structure and Genetic Diversity in Argentinean populations Other
EGAS00001001569 Population whole-genome bisulfite sequencing across two tissues highlights environment as principal source of human methylome variation Other
EGAS00001000571 POT1 splice site mutant analysis Transcriptome Analysis
EGAS00000000119 Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression Genotypes and Expression array
EGAS00001001301 PRDM9 loss of function follow up from Born in Bradford Autozygosity sequencing Whole Genome Sequencing
EGAS00001001422 Precursor lesions clonal architecture and relapse in Wilms nephroblastoma Cancer Genomics
EGAS00001000094 PREDICT Cancer Genomics
EGAS00001000934 PREDICT Whole Genomes Cancer Genomics
phs000222.v1.p1 PREDICT-HD Huntington Disease Study Observational; Longitudinal
EGAS00001001026 Prediction and quantification of splice events from RNA-seq data Other
EGAS00001001174 Prediction of pigmentation phenotypes by SNP typing in a Northern German population Other
EGAS00001001909 Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies Other
EGAS00001001575 Prenatal lead exposure is associated with decreased cord blood DNA methylation of the glycoprotein VI gene involved in platelet activation and thrombus formation Other
EGAS00001000851 Primary angiosarcoma Whole Genome Sequencing Cancer Genomics
EGAS00001000354 Primary Lung Cancer whole genome study Cancer Genomics
EGAS00000000055 Procardis study on novel susceptibility genes for coronary artery disease (CAD) GWAS
EGAS00001000879 Prognostic factors in prostate cancer deep sequencing pilot project TAPG Cancer Genomics
EGAS00001002049 Prognostic relevance of microenvironmental factors CD163 and CD8 combined with EZH2 and chromosome 18 gain in a validation cohort of follicular lymphoma patients of the Lunenburg Lymphoma Biomarker Consortium Other
EGAS00001002570 Progression to AML is predictable and distinct from age related clonal hematopoiesis Other
phs000447.v1.p1 Prostate Cancer Genome Sequencing Project Case Set
EGAS00001000427 Prostate Cancer Whole Genome Validations Cancer Genomics
EGAS00001001625 PSCP bisulphite analysis in hESCs Epigenetics
EGAS00001000606 Pseudogene RNAseq Cancer Genomics
EGAS00001000233 Pulldown cytosine deaminases Cancer Genomics
EGAS00001000979 Pulldown DNA methylation study v2 Cancer Genomics
EGAS00001000028 PV Exome Study Cancer Genomics
EGAS00001001822 QSEA – modelling of genome-wide DNA methylation from sequencing enrichment experiments Other
EGAS00001000642 Quantification of chromosomal copy number aberrations by shallow whole-genome sequencing Other
EGAS00001000138 Radiotherapy induced sarcoma Cancer Genomics
EGAS00001000194 Radiotherapy induced Sarcoma exome Cancer Genomics
phs000564.v1.p1 Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units Case Set; Parent-Offspring Trios
phs000623.v1.p1 Rare Mendelian Disease in Old Order Amish and Mennonite Patients Case Set
EGAS00001001665 Rare SNPs in receptor tyrosine kinases are negative outcome predictors in multiple myeloma Other
EGAS00001001102 RB Loss in Resistant EGFR Mutant Lung Adenocarcinomas that Transform to Small Cell Lung Cancer Other
EGAS00001000598 RB1 Gene Inactivation by Chromothripsis in Human Retinoblastoma Other
phs000513.v1.p1 Rearrangements of the MAST Kinase and Notch Gene Families in Breast Cancer Cohort
EGAS00001001868 Recent genetic history of Denmark Other
EGAS00001001568 reChIP-seq reveals widespread bivalency of H3K4me3 and H3K27me3 in CD4+ memory T-Cells Other
EGAS00001002078 Reconstructing the dispersals and adaptive history of Bantu-speaking populations in Africa and North America Other
EGAS00001001284 Recurrent adeno-associated virus 2-related insertional mutagenesis in human hepatocellular carcinomas Other
EGAS00001000685 Recurrent epimutations activate gene body promoters in primary glioblastoma Other
EGAS00001001190 Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma Other
EGAS00001000135 Recurrent somatic DICER1 mutations in non-epithelial ovarian tumors Cancer Genomics
EGAS00001001916 Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas Other
EGAS00001000554 Recurrent Somatic Mutations of PTPN1 in Primary Mediastinal B cell lymphoma and Hodgkin Lymphoma Other
EGAS00001000578 Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M-mutant pediatric high-grade gliomas Other
EGAS00001001173 Reference DNA standards for GCLP pipeline Cancer Genomics
EGAS00001000552 Reference epigenomes generated as part of the International Human Epigenomics Consortium (IHEC) Other
EGAS00001002265 Regions of common inter-individual DNA methylation differences in human monocytes. Other
EGAS00001001957 Relaxed selection during a recent human expansion Other
EGAS00001000006 Renal Cancer Exome Sequencing Cancer Genomics
EGAS00001000095 Renal Follow Up Series Cancer Genomics
EGAS00001000179 Renal Matched Pair Cell Line Exome Sequencing Cancer Genomics
EGAS00001000826 Reproducibility of variant calls in replicate next generation sequencing experiments Other
EGAS00001000582 Resistance to anti-EGFR therapy in colorectal cancer Other
EGAS00001001304 Resistance to MAPK inhibitor induces internal duplication in BRAF Other
EGAS00001001883 Resolving the Genetic Architecture of Aseptic Loosening After Total Hip Replacement Population Genomics
EGAS00001001285 Ribosome Profiling of Macrophages during Salmonella Infection Whole Genome Sequencing
phs000456.v1.p1 Risk Assessment of Cerebrovascular Events (RACE) Study Case-Control
EGAS00001000495 RNA Editing in breast cancer Transcriptome Analysis
EGAS00001001537 RNA expression profiling of melanoma patient derived xenograft Transcriptome Analysis
EGAS00001000283 RNA Seq in Patients with Primordial Dwarfism Transcriptome Analysis
EGAS00001001708 RNA seq of Toxoplasma gondii response in human macrophages Transcriptome Analysis
EGAS00001000310 RNA sequencing Other
EGAS00001000610 RNA sequencing and Illumina 2.5M SNP array data collected from 675 commonly used human cancer cell lines. Other
EGAS00001001872 RNA sequencing data from visceral and abdominal subcutaneous adipose tissue from morbidly obese women with normal glucose tolerance or type 2 diabetes Other
EGAS00001001918 RNA sequencing in blood samples of cluster headache patients Other
EGAS00001000805 RNA-seq data from the EUROBATS Project in four tissues: Fat, LCL, Skin and whole Blood. Other
phs000609.v1.p1 RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism Case-Control
EGAS00001001795 RNA-sequencing data from 195 B-cell precursor acute lymphoblastic leukemias and mate pair whole genome sequencing data from 15 B-cell precursor acute lymphoblastic leukemias Other
EGAS00001002149 RNA-sequencing of six Pilocytic astrocytoma tumors Other
EGAS00001000813 RNAseq Discovery of resistance mechanisms to the BRAF inhibitor vemurafenib in metastatic BRAF mutant melanoma Cancer Genomics
EGAS00001002105 RNAseq data of polyA+ RNA from Leukocytes from 624 individuals of the SardiNIA cohort. Other
EGAS00001000761 RNAseq data to study PRPF6 regulated splice forms in colon cancer cell lines Other
EGAS00001000267 RNAseq of patients with Ewings sarcoma Cancer Genomics
EGAS00001001591 RNAseq of ribosomal footprints Cancer Genomics
EGAS00001000230 RNAseq Pulldown Other
EGAS00001000742 Role of Epigenetic Memory in Human Induced Pluripotent Stem Cells Pilot Transcriptome Analysis
EGAS00001002213 Same-day genomic and epigenomic diagnosis of brain tumors using realtime nanopore sequencing Other
EGAS00001000067 Samples from the Greek island of Crete, MANOLIS cohort Whole Genome Sequencing
phs000313.v3.p2 SardiNIA Medical Sequencing Discovery Project Family; Population
EGAS00001000196 SCAT osteosarcoma sequencing Cancer Genomics
EGAS00001000009 SCLC Synthetic Genomics
EGAS00001000076 Screening for abnormal CGI methylation in primary colorectal tumours Epigenetics
EGAS00001000074 Screening for human epigenetic variation at CpG islands Epigenetics
EGAS00001001258 Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis Other
phs000088.v1.p1 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK Case-Control
phs000018.v1.p1 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN Case-Control
EGAS00001001741 Searching for variants associated with endometriosis Other
EGAS00001000899 SeqControl: Process Control for DNA Sequencing Other
phs000369.v1.p1 Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes Case Set; Tumor vs. Matched-Normal; Exome Sequencing
EGAS00001000035 Sequencing Acute Myeloid Leukaemia Synthetic Genomics
EGAS00001000328 Sequencing and analysis of a South Asian-Indian personal genome Whole Genome Sequencing
EGAS00001000490 Sequencing component for the whole genome methylation analysis in PBMCs and cell subsets pilot study Epigenetics
EGAS00001002081 Sequencing melanoma germlines Other
EGAS00001001172 Sequencing of heritable Bleeding and Platelet Disorders Other
EGAS00001002186 Sequencing of pancreatic cancer primary tumors and metastases Other
EGAS00001000591 Sequencing of rare human histiocytic tumour Cancer Genomics
EGAS00001001466 Sequencing of serial plasma and multiregional tumor samples in a patient with metastatic breast cancer Other
EGAS00001000488 Sequencing probands and families with severe insulin resistance syndromes Other
EGAS00001000078 SFHS pedigrees Whole Genome Sequencing
EGAS00001000607 SHH medulloblastoma samples Other
EGAS00001000264 Shwachman Diamond syndrome SDS Exome sequencing Other
EGAS00001000975 Signatures of Aristolochic Acid Mutagenesis in Bladder Cancer Other
EGAS00001000182 Signatures of mismatch repair deficiency in cancer genomes Whole Genome Sequencing
EGAS00001002065 Similarity and diversity of the tumor microenvironment in multiple metastases: critical implications for overall and progression-free survival of high-grade serous ovarian cancer. Other
EGAS00001002449 single cell and plasma Other
EGAS00001002278 Single Cell RNAseq at various stages of HiPSCs differentiating toward definitive endoderm and endoderm derived lineages Transcriptome Analysis
EGAS00001000935 Single Cell Sequencing of Sperm scSperm Population Genomics
EGAS00001000435 Single Cell Targeted Sequence Capture Cancer Genomics
EGAS00001001945 Single cell Transcriptomic Analysis of Cellular Heterogeneity in Human Colorectal Tumors Other
EGAS00001002185 Single-cell profiling maps the spectrum of crosstalk between glioma cells and tumor associated macrophages Other
EGAS00001002072 Single-cell RNA sequencing on 5063 single T cells isolated from peripheral blood, tumour and adjacent normal tissues from six hepatocellular carcinoma patients. Other
EGAS00001002560 Single-cell RNA sequencing reveals cell-type specific eQTLs in peripheral blood mononuclear cells Other
EGAS00001001052 Skin Adenocarcinoma Genome Sequencing Other
phs000266.v2.p1 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency Longitudinal; Case-Control
phs000426.v1.p1 SLCO1B1 Variants and Methotrexate Clearance Cohort
EGAS00001000714 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 Other
phs000579.v1.p1 Small Intestine Neuroendocrine Tumors (Carcinoid Tumors) Case Set; Tumor vs. Matched-Normal
EGAS00001001292 SNP genotyping data in genes related to trace element homeostasis Other
EGAS00001001237 SNP genotyping of multiplex autoimmune Addison's families from the UK and Norway Other
phs000349.v1.p1 SNPs and Extent of Atherosclerosis (SEA) Study Cross-Sectional
EGAS00001001343 Somatic Genetics of lesions from a POT1 patient Cancer Genomics
EGAS00001000192 Somatic Histone H3 Mutations in Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Paediatric Glioblastomas Whole Genome Sequencing
phs000536.v1.p1 Somatic L1 Retrotransposition in Colorectal Tumors Case-Control
phs000671.v1.p1 Somatic Mutations in Variant and IGHV4-34 Expressing Hairy Cell Leukemia Case Set; Tumor vs. Matched-Normal; Exome Sequencing
EGAS00001000840 Spatial and temporal diversity in genomic instability processes define early stage lung cancer evolution. Other
EGAS00001000643 Spatial and temporal evolution of distal 10q deletion, a prognostically unfavorable event in diffuse low-grade gliomas Other
EGAS00001001033 Spatial and temporal genomic evolution in glioblastoma Other
EGAS00001001654 Spatial and Temporal Homogeneity of Driver Mutations in Diffuse Intrinsic Pointine Glioma Other
EGAS00001001014 Spatial heterogeneity in medulloblastoma Other
EGAS00001001041 Spatio-temporal evolution of the primary glioblastoma genome Other
EGAS00001001800 Spatio-temporal evolution of the primary glioblastoma genome (newly added after 2015) Other
phs000406.v1.p1 Spatiotemporal Transcriptome of the Human Brain Control Set
EGAS00001000728 SPECTA NGS Screening Program for Efficient Clinical Trial Access Cancer Genomics
EGAS00001002206 Spectrum and significance of MYC and BCL2 mutations in DLBCL Other
EGAS00001000139 Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing Cancer Genomics
phs000482.v1.p1 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Parent-Offspring Trios; Parent-Offspring Quads
phs000226.v2.p1 STAMPEED: Cardiovascular Health Study (CHS) GWAS to identify genetic variants associated with aging and CVD risk factors and events Longitudinal
phs000294.v1.p1 STAMPEED: Myocardial Infarction Genetics Consortium (MIGen) Case-Control
phs000276.v1.p1 STAMPEED: Northern Finland Birth Cohort 1966 (NFBC1966) Longitudinal
phs000143.v1.p1 Starr County Health Studies' Genetics of Diabetes Study Case-Control
phs000478.v1.p1 Strabismus, CCDD and other anomalies Probands; Mendelian; Family
EGAS00001000273 Stratifying and Targeting Pediatric Medulloblastoma through Genomics Other
phs000092.v1.p1 Study of Addiction: Genetics and Environment (SAGE) Case-Control
EGAS00001000926 Study of non-clear cell renal cell carcinoma Other
EGAS00001000749 Study of pediatric hepatocellular carcinoma caused by bile salt export pump deficiency Other
EGAS00001001176 Study of renal cancers and renal cancer metastases Other
EGAS00001000668 Study on the consequences of prenatal famine exposure on DNA methylation. Other
EGAS00001000883 Study on the proliferation history of colorectal adenomas Other
EGAS00001000814 Study to investigate the prevalence of leukaemic mutations in whole blood DNA in a cohort of blood donors Resequencing
EGAS00001000441 Subclonal analysis in S7RE2 and S7RE14 iPS cells Resequencing
EGAS00001002436 Subclonal evolution of four ER+ breast cancers determined by WGS and scRNA-Seq Other
EGAS00001001866 Subtype specific progression from DCIS to invasive breast cancer Other
EGAS00001000882 Succession Of Transiently Active Tumour-Initiating Cell Clones in Human Pancreatic Cancer Other
EGAS00001002410 Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down Syndrome Other
EGAS00001000387 Susceptibility genes for the development of SLE during treatment of IBD Other
phs000473.v1.p1 Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing Case-Control
EGAS00001002588 Systematic kinase inhibitor profiling identifies CDK9 as a synthetic lethal target in NUT midline carcinoma Other
EGAS00001000854 Systems biology of Colorectal Cancer Other
EGAS00001002082 T19 Chad xten Whole Genome Sequencing
EGAS00001002083 T19 Yemen Whole Genome Sequencing
EGAS00000000038 T1DGC GWAS 1958 British Birth Cohort controls GWAS
phs000462.v1.p1 T2D-GENES Project 2: San Antonio Mexican American Family Studies Family; Longitudinal
EGAS00001001460 T2D-GENES: Exome sequencing Other
EGAS00001000528 Tagmentation-based Whole Genome Bisulfite Sequencing Other
EGAS00001000390 Targeted gene fusion sequencing Fus seq in mesothelioma Cancer Genomics
EGAS00001001797 Targeted gene screen of drug resistant organoids Cancer Genomics
phs000339.v1.p1 Targeted MitoExome Sequencing of Mitochondrial OXPHOS Diseases (Massachusetts General Hospital) Case Set
EGAS00001002506 Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathie Other
EGAS00001000260 Targeted Pulldown Validation of mutations found in whole genome sequencing Cancer Genomics
EGAS00001001238 Targeted replication of LVOTO genes Other
EGAS00001002405 Targeted resequencing of ribosomal proteins in multiple myeloma patient samples. Other
EGAS00001001949 Targeted sequencing analysis for MDS with HSCT Other
EGAS00001001605 Targeted sequencing of 12 genes in patients with HLH Other
EGAS00001001607 Targeted sequencing of brain expressed miRNA genes Other
EGAS00001000408 Targeted sequencing of genes recurrently mutated in AML Cancer Genomics
EGAS00001000570 Targeted sequencing of genes recurrently mutated in AML part2 Cancer Genomics
EGAS00001001289 Targeted Sequencing of Human Myeloid Malignancies Cancer Genomics
EGAS00001001844 Targeting FGFR1 for treatment of soft-tissue sarcoma (H021) Other
EGAS00001001462 Targeting PTPRK-RSPO3 colon tumours promotes differentiation and loss of stem-cell function Other
EGAS00001000839 Targeting the DNA Repair Pathway in Ewing Sarcoma Other
EGAS00001000758 TCELL PILOT ATAC SEQ Transcriptome Analysis
EGAS00001001308 Telomerase activation by genomic rearrangements in high-risk neuroblastoma Other
phs000418.v1.p1 Temporal Dissection of Tumorigenesis in Primary Cancers Tumor vs. Matched-Normal
EGAS00001001479 TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors Other
EGAS00001000214 Test of PCR library method on whole genmoe samples Cancer Genomics
EGAS00001000889 TEST STUDY for submitter testing Other
EGAS00001000173 Testing the feasibility of genome scale sequencing in routinely collected FFPE cancer specimens versus matched fresh frozen samples Cancer Genomics
EGAS00001000071 Tetralogy of Fallot Exome Trios Other
EGAS00001000958 TGS Comprehensive Molecular Characterization of Colorectal Cancer Metastases MOSAIC Cancer Genomics
EGAS00001002201 THAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development Other
EGAS00001002176 The aim of this project is to identify, on 15 French Caucasian and 10 African-Caribbean men, through an integrative approach of DNA sequencing and transciptomic analyses, relevant genomic events that characterize or allow targeting the various phenotypes of aggressiveness of early stages of prostate cancer. Other
phs000090.v1.p1 The Atherosclerosis Risk in Communities (ARIC) Study Case-Cohort
EGAS00001001159 The BC Cancer Agency's Personalized Onco-Genomics Project Cancer Genomics
EGAS00001001167 The Berlin (BLN) panel of glioblastoma cell lines: RNAseq of human gliomasphere cell lines and matched parental tumors Other
EGAS00001001565 The British Autozygosity Populations BioResource Other
EGAS00001000411 The Cardiogenics study Transcriptome Analysis
EGAS00001002605 The chromatin accessibility signature of human immune aging stems from CD8+ T cells Other
EGAS00001000132 The clonal and mutational evolution spectrum of primary triple negative breast cancers Exome Sequencing
EGAS00000000129 The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Genotype
EGAS00001001841 The dataset of Southeast Borneo individuals (Banjar and Ngaju ethnic groups) was used as comparative data to determine the Asian parental population of the Malagasy. Our study found strong support for an origin of the Asian ancestry of Malagasy among the Banjar. Other
EGAS00001000963 The Druze analysis group Other
phs000644.v1.p1 The Effect of the Menstrual Cycle on DNA Expression in the Normal Human Breast Epithelium Observational
phs000293.v1.p1 The Familial Intracranial Aneurysm Linkage Study (FIA) Family Linkage
phs000100.v3.p1 The Finland-United States Investigation of NIDDM Genetics (FUSION) Study Case-Control
EGAS00001000016 The GENCODE exome sequencing the complete human exome Exome Sequencing
phs000495.v1.p1 The Gene Partnership (TGP) - eMERGE Data Longitudinal; Prospective
EGAS00000000101 The Genetic Analysis of multiple sclerosis GWAS
phs000404.v1.p1 The Genetic Architecture of Smoking and Smoking Cessation Case-Control; Case Set
EGAS00001001573 The genetic evolution of precursor lesions in pancreatic cancer Cancer Genomics
EGAS00001002164 The Genetic Landscape of BCL2 Break Negative Follicular Lymphoma Other
phs000562.v1.p1 The Genetic Landscape of Mutations in Burkitt Lymphoma Tumor vs. Matched-Normal
phs000409.v1.p1 The Genomic Analysis of Medulloblastoma Case Set; Whole Genome Sequencing; Tumor vs. Matched-Normal
EGAS00001000353 The genomic architecture of mesothelioma Cancer Genomics
phs000340.v2.p1 The genomic complexity of early T-cell progenitor acute lymphoblastic leukemia Whole Genome Sequencing; Tumor vs. Matched-Normal; Case Set
phs000330.v1.p1 The Genomic Complexity of Primary Human Prostate Cancer Cohort
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
EGAS00001000901 The Genomic Landscape of Childhood and Adolescent Melanoma Other
EGAS00001000349 The Genomic Landscape of Core-Binding Factor Acute Myeloid Leukemias Other
EGAS00001000383 The genomic landscape of large and small tumors in early-onset prostate cancer patients Cancer Genomics
EGAS00001001305 The Genomic Landscape of Response to EGFR Blockade in Colorectal Cancer Other
phs000343.v1.p1 The Genomics and Randomized Trials Network (GARNET) Vitamin Intervention Stroke Prevention (VISP) trial Multicenter; Randomized; Clinical Trial; Double-Blind; Controlled Trial
phs000563.v1.p1 The genomics of pilocytic astrocytoma formation in neurofibromatosis type 1 Case Set
EGAS00000000132 The Haemgen RBC study Genotype
EGAS00001001710 The Haplotype Reference Consortium Other
EGAS00001001515 The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans Other
phs000265.v3.p1 The Human Gut Microbiome and Recurrent Abdominal Pain in Children Case-Control
phs000264.v2.p1 The Human Virome in Children and its Relationship to Febrile Illness Prospective
EGAS00001002092 The ICGC-TCGA DREAM Somatic Mutation Calling - Tumour Heterogeneity Challenge Other
EGAS00001000062 The International 1q type 2 diabetes consortium Other
EGAS00001000449 The landscape of somatic mutations in epigenetic regulators across 1000 pediatric cancer genomes Epigenetics
phs000261.v1.p1 The Microbial Ecology of Bacterial Vaginosis: A Fine Scale Resolution Metagenomic Analysis Prospective; Cohort
EGAS00001001077 The mission of the BIOS Consortium is to create a large-scale data infrastructure and to bring together BBMRI researchers focusing on integrative omics studies in Dutch Biobanks. Other
phs000475.v1.p1 The molecular basis of inherited reproductive disorders Probands; Mendelian; Family
EGAS00001001893 The molecular landscape of colorectal cancer reveals genetic mutations. Other
phs000299.v1.p1 The mutation spectrum revealed by paired genome sequences from a lung cancer patient Single Patient; Tumor vs. Matched-Normal
phs000370.v1.p1 The Mutational Landscape of Head and Neck Squamous Cell Carcinoma Case Set; Tumor vs. Matched-Normal; Exome Sequencing
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
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
phs000247.v2.p2 The Neonatal Microbiome and Necrotizing Enterocolitis Case-Control
EGAS00001001012 The NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects Other
EGAS00001002305 The Ovarian Cacner Association Consortium OncoArray genome-wide association study Other
EGAS00000000064 The patterns and dynamics of genomic instability in metastatic pancreatic cancer Whole Genome Sequencing
EGAS00001001898 The Prediction and Prevention of Preeclampsia Other
phs000308.v1.p1 The Primary Open-Angle Glaucoma Genes and Environment (GLAUGEN) Study Case-Control
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
phs000433.v1.p1 The Sea Islands Genetic Network (SIGNET): Identifying genetic contributors to diabetes and dyslipidemia in African Americans Case-Control; Family
EGAS00001001959 The Simons Genome Diversity Project: 300 genomes from 142 diverse populations Other
EGAS00001001603 The spatial organization of intratumor heterogeneity and evolutionary trajectories of metastases in hepatocellular carcinoma Other
EGAS00001000646 The study provides comprehensive access to the set of EGA studies which may be useful as controls. Other
EGAS00001002153 The subclonal architecture of metastatic breast cancer: Results from a prospective community-based rapid autopsy program "CASCADE" Other
phs000258.v2.p1 The Thrifty Microbiome: The Role of the Gut Microbiota in Obesity in the Amish Longitudinal
EGAS00001001242 The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer Other
EGAS00001000413 The Transcriptome of PLX4032 resistance Transcriptome Analysis
phs000256.v2.p2 The Vaginal Microbiome: Disease, Genetics and the Environment Twin; Clinical Cohort
EGAS00001000991 Therapeutic Resistance to PI3K-alpha Inhibitors Other
EGAS00001002374 There are 10 colorectal cancer cases in this study and belong to COCA-CN project Other
EGAS00001002174 There are 21 colorectal cancer cases in this study and belong to COCA-CN project Other
EGAS00001002578 There are 5WGS and 35WES sample pairs from the first affiliated hospital of kunming medical university, which belongs to ICGC projects COCA-CN. Other
EGAS00001002352 There are 80 Brain cancer cases in this study and belong to GBM-CN project. Resequencing
EGAS00001002251 This study explored and validated the clinical application of targeted NGS of circulating tumor DNA in identifying tumor-specific mutations and uncovering clinical actionable targets in a variety of solid tumors in large patient cohorts. Other
EGAS00001001682 Tissue-specific mutation accumulation in human adult stem cells during life Other
EGAS00001000569 TMD AMKL targeted follow up Cancer Genomics
EGAS00001000732 TMD AMKL targeted follow up part 2 Cancer Genomics
EGAS00001000027 TMD AMLK Exome Study Cancer Genomics
EGAS00001001044 To reveal the spectrum of gene mutations in grade II/III gliomas, whole exome sequencing of 52 samples including 4 multi-regional and 10 multi-time points sampling cases and 291 SNP-array were performed. Other
phs000348.v1.p1 Towards a Genomic Understanding of Myeloma Tumor; Cohort
EGAS00001002415 TRACERx 100: metastatic samples Other
EGAS00001002247 TRACERx 100: whole exome data of the first 100 TRACERx tumours Other
EGAS00001000809 TRACERx: TRAcking non-small cell lung Cancer Evolution through therapy (Rx). Pilot Study. Multi-region sequencing of early-stage NSCLCs. Other
EGAS00001002102 Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing Other
EGAS00001002225 Tracing the origins of relapse in AML to stem cells Other
EGAS00001001254 Tracking the genomic evolution of esophageal adenocarcinoma through neoadjuvant chemotherapy Other
EGAS00001000942 Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer Other
EGAS00001001501 TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism Other
EGAS00001001476 TraIT Cell Line use case Other
EGAS00001001427 Trans-ethnic genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation Other
EGAS00001002195 Transcriptional mechanisms of resistance to anti-PD-1 therapy Other
EGAS00001001873 Transcriptome analysis of anaplastic meningiomas Transcriptome Analysis
EGAS00001001294 Transcriptome human nasal epithelium Transcriptome Analysis
EGAS00001001859 Transcriptome profiling for Korean Diffuse Gastric cancers Other
phs000443.v1.p1 Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progression Cohort
EGAS00001000261 Transcriptome Sequencing of Cancer Cell Lines Cancer Genomics
EGAS00001001486 Transcriptomics of human olfactory mucosa Transcriptome Analysis
EGAS00001000751 Transposome Bisulfite Sequencing Cancer Genomics
phs000511.v1.p1 Treatment of genetic screening of hypertriglyceridemia type I, III, and V - HTG Amsterdam Probands; Mendelian; Family
EGAS00001000377 Triple Negative Breast Cancer RNA Sequencing Cancer Genomics
EGAS00001000161 Triple Negative Breast Cancer sequencing Cancer Genomics
EGAS00001000426 Triple Negative Breast Cancer Whole Genome Validations Cancer Genomics
EGAS00001000092 Triple Negative Breast Cancer Whole Genomes Cancer Genomics
EGAS00001002262 TSG knock out in hiPSCs Cancer Genomics
EGAS00001001590 TTV018 RORC IBD associated genotype effects on RORgT expression and function in ex vivo T cells Transcriptome Analysis
EGAS00001000568 Tumor suppressor miR-133a modulates the prostate cancer epigenome by repressing BAZ2A Other
EGAS00001002377 Tumor-derived exosomes modulate PD-L1 expression in monocytes Other
EGAS00001000725 TUMORS - 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 - This study contains the tumors not from the 100 cohort study. Other
EGAS00001000793 Two lung cancer cell lines with EGFR mutations, PC-9 and KHM-3S, were either treated with Tarceva for 24 hours or left untreated. The gene expression profiles were examined by RNAseq, and the genome wide binding profiles of total STAT3 and pSTAT3 were characterized by ChIPseq. Other
phs000180.v2.p2 Type 1 Diabetes Genetics Consortium (T1DGC): Genome-Wide Association Study in Type 1 Diabetes, 2008 Case Set
EGAS00001002399 UK Biobank whole cohort directly genotyped and imputed data (~500,000 participants) Other
EGAS00001000090 UK10K COHORT ALSPAC Whole Genome Sequencing
EGAS00001000108 UK10K COHORT TWINSUK Whole Genome Sequencing
EGAS00001000109 UK10K NEURO ABERDEEN Other
EGAS00001000111 UK10K NEURO ASD BIONED Other
EGAS00001000110 UK10K NEURO ASD FI Exome Sequencing
EGAS00001000112 UK10K NEURO ASD GALLAGHER Exome Sequencing
EGAS00001000113 UK10K NEURO ASD MGAS Other
EGAS00001000114 UK10K NEURO ASD SKUSE Other
EGAS00001000118 UK10K NEURO FSZ Other
EGAS00001000119 UK10K NEURO FSZNK Other
EGAS00001000225 UK10K NEURO GURLING Other
EGAS00001000120 UK10K NEURO IMGSAC Other
EGAS00001000122 UK10K NEURO MUIR Exome Sequencing
EGAS00001000123 UK10K NEURO UKSCZ Exome Sequencing
EGAS00001000242 UK10K OBESITY GS Other
EGAS00001000124 UK10K OBESITY SCOOP Exome Sequencing
EGAS00001000125 UK10K RARE CHD Other
EGAS00001000127 UK10K RARE COLOBOMA Other
EGAS00001000128 UK10K RARE FIND Other
EGAS00001000129 UK10K RARE HYPERCHOL Exome Sequencing
EGAS00001000130 UK10K RARE SIR Other
EGAS00001000131 UK10K RARE THYROID Exome Sequencing
phs000262.v2.p1 Ulcerative Colitis Human Microbiome Project (UCHMP) Longitudinal
EGAS00001002627 Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance Other
EGAS00001000336 Understanding population genetics and patterns of genome wide heterozygosity in a sample of the Croatian isolated populations ESGIDalmatians Other
EGAS00001001232 Understanding Society GWAS Population Genomics
EGAS00001000760 Unraveling metastatic progression of breast cancer Other
EGAS00001000093 Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density Other
phs000259.v2.p1 Urethral Microbiome of Adolescent Males Longitudinal; Observational; Cohort
EGAS00001000515 Use of Deep Sequencing to Dectect Clonal Mutations In Sun Exposed Skin Epidermis Cancer Genomics
EGAS00001000603 Use of Deep Sequencing to Dectect Clonal Mutations In Sun Exposed Skin Epidermis PART2 Cancer Genomics
EGAS00001000860 Use of deep sequencing to detect clonal mutations in sun exposed human epidermis whole genome Cancer Genomics
EGAS00001001806 V2 Colorectal panel test Cancer Genomics
EGAS00001001780 V2 panel bait design test Cancer Genomics
EGAS00001001218 Validation for human early embryonic substitutions Cancer Genomics
EGAS00001000285 Validation of a Haloplex platform for targeted re sequencing of the exons of 25 genes Resequencing
EGAS00001000430 Validation of AML Mutational Screening Resequencing
EGAS00001000423 Validation of Exome sequencing of S7RE iPSC lines Resequencing
EGAS00001000464 Validation of SNVs found by Exome seq in S2 SF1 SF5 and SF9 hiPSCs Resequencing
phs000188.v1.p1 Vanderbilt Genome-Electronic Records (VGER) Project: QRS Duration Case Set
EGAS00001001875 Variation in the Glucose Transporter gene SLC2A2 is associated with glycaemic response to metformin Other
EGAS00001000012 Various Cancer Fusion Gene Sequencing Cancer Genomics
EGAS00001000107 Various Platelet Disorders Other
EGAS00001001701 Very short reads file for testing purposes Other
phs000224.v1.p1 VitGene Generalized Vitiligo Genetics Study Case-Control; Parent-Offspring Trios; Multiplex Families
EGAS00001000907 Von Hippel-Lindau syndrome multi-region exome sequencing project from two patients undertaken at Cancer Research UK's London Research Institute Other
EGAS00001001698 Warm Autopsy Single Cell X10 Cancer Genomics
EGAS00001000981 We evaluate the PGD/PGS including 129 couples with NGS test and 266 couples with SNP-array test for the detection of embryonic chromosomal abnormalities. Other
EGAS00001001886 We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Other
EGAS00001001610 We screened 2.5 million SNPs in 161 individuals from 13 Sahelian populations from Western, Central and Eastern parts of the belt, and including both nomadic and sedentary groups Other
EGAS00001001714 WES analysis of a mixed cohort of pituitary tumors Other
EGAS00001002050 WES used for direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry Other
EGAS00001001056 WGS and WES of 78 pairs Chinese gastric cancer Other
EGAS00001000632 WGS low coverage sequencing of Bantu from Cameroon Whole Genome Sequencing
EGAS00001000636 WGS low coverage sequencing of Chagga from Tanzania Whole Genome Sequencing
EGAS00001000629 WGS low coverage sequencing of Fulani from Burkina Faso Whole Genome Sequencing
EGAS00001000631 WGS low coverage sequencing of Mossi from Burkina Faso Whole Genome Sequencing
EGAS00001000637 WGS low coverage sequencing of Pare from Tanzania Whole Genome Sequencing
EGAS00001000633 WGS low coverage sequencing of Semi Bantu from Cameroon Whole Genome Sequencing
EGAS00001000638 WGS low coverage sequencing of Wasambaa from Tanzania Whole Genome Sequencing
EGAS00001000678 WGS of liver cancer in the Japanese population Other
EGAS00001002398 WGS of NKTLs for ICGC Other
EGAS00001000950 Whole exome and transcriptome sequencing of biliary tract cancer Other
EGAS00001000521 Whole exome and whole genome sequencing of juvenile myelomonocytic leukemia (JMML) Other
EGAS00001000808 Whole exome sequencing CHD trios Other
EGAS00001002193 Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). Other
EGAS00001001889 Whole exome sequencing data of germline and two independent primary leukemias of five patients Other
EGAS00001000026 Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders Other
EGAS00001002067 Whole exome sequencing for clarification of rare causes of axonal Charcot Marie Tooth disease Other
phs000636.v1.p1 Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study Family
EGAS00001000853 Whole exome sequencing for gallbladder cancer in Xinhua Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine Other
EGAS00001000602 Whole exome sequencing for HELIC Other
phs000641.v1.p1 Whole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia Family
EGAS00001000240 Whole Exome sequencing in a large IBD pedigree Other
phs000376.v1.p1 Whole Exome Sequencing in Familial Parkinson Disease Family
EGAS00001002439 Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion Other
EGAS00001002319 Whole exome sequencing in RVOT patients Other
EGAS00001000677 Whole exome sequencing of 103 pairs BLCA-CN Other
EGAS00001000712 Whole exome sequencing of 49 tumors and transcriptome sequencing of 44 tumors for adrenocortical tumors Other
EGAS00001001114 Whole exome sequencing of additional thyroid disease cases Other
EGAS00001002326 Whole exome sequencing of an invasive diffuse intrinsic pontine glioma sampled from different sites Other
phs000435.v1.p1 Whole Exome Sequencing of Chronic Lymphocytic Leukemia Case Set; Tumor vs. Matched-Normal
EGAS00001000729 Whole Exome Sequencing of cohorts of Mutant Braf mouse model melanoma DNA and germline DNA. Other
phs000450.v1.p1 Whole Exome Sequencing of Diffuse Large B-Cell Lymphoma Case Set; Tumor
EGAS00001002103 Whole exome sequencing of Dutch Parkinson's disease patients. Other
EGAS00001001835 Whole exome sequencing of Finnish hereditary breast cancer families Other
EGAS00001000938 Whole Exome Sequencing of healthy Spanish individuals Other
EGAS00001000530 Whole exome sequencing of inflammatory bowel disease cases Other
EGAS00001000825 Whole Exome Sequencing of INTERVAL Other
EGAS00001001268 Whole exome sequencing of papillary thyroid carcinoma in the Chinese population Other
EGAS00001002156 Whole exome sequencing of Parkinson's disease patients from the United Kingdom Other
EGAS00001000557 Whole exome sequencing of peripheral T-cell lymphoma (PTCL) Other
EGAS00001000047 Whole Exome Sequencing of Permanent Neonatal Diabetes Patients Other
EGAS00001000228 Whole exome sequencing of rare autoimmune related phenotypes Other
EGAS00001000025 Whole exome sequencing of Severe Insulin Resistant patients Other
EGAS00001000389 Whole exome sequencing of virus-associated HCC Exome Sequencing
EGAS00001000388 Whole exome sequencing of young onset Primary Sclerosing Cholangitis Other
EGAS00001001690 Whole exome sequencing on primary retinoblastoma tissues and matching lymphocyte DNA. Other
EGAS00001001084 Whole exome sequencing reveals the mutational spectrum of testicular germ cell tumours Other
phs000535.v1.p1 Whole Genome and Exon Capture Sequencing of Bladder Cancers Cohort
EGAS00001001139 Whole genome and RNA sequencing of paediatric glioblastoma in the ICGC PedBrain project Other
EGAS00001000484 Whole genome and transcriptome analysis of a sporadic and recurring parathyroid carcinoma Whole Genome Sequencing
EGAS00001001214 Whole genome and transcriptome analysis of anaplastic thyroid carcinoma Other
EGAS00001001473 Whole genome and transcriptome analysis of medullary thyroid cancer Other
phs000017.v3.p1 Whole Genome Association Study of Bipolar Disorder Case-Control
phs000122.v1.p1 Whole Genome Association Study of Systemic Lupus Erythematosus Case-Control
phs000169.v1.p1 Whole Genome Association Study of Visceral Adiposity in the Health Aging and Body Composition (Health ABC) Study Longitudinal; Cross-Sectional
EGAS00001000455 Whole genome bisufite sequencing of smoking and non-smoking mother-child pairs Bisufite sequencing, RNA-seq and ChIP-Seq data of whole blood samples from smoking and non-smoking mothers and their children at gestation/birth and follow-up years. Epigenetics
EGAS00001000877 Whole genome DNA sequencing for two long-lived humans. Other
EGAS00001000272 Whole Genome Methylation in CLL Epigenetics
phs000608.v1.p1 Whole Genome Profiling to Detect Schizophrenia Methylation Markers 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
EGAS00001002338 whole genome sequence data of multifocal hepatocellular carcinoma Other
EGAS00001000429 Whole genome sequence of third generation family member SFHS Whole Genome Sequencing
EGAS00001000575 Whole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue Other
EGAS00001000474 Whole genome sequencing and whole exome sequencing of mucosal melanoma Other
EGAS00001000060 Whole genome sequencing in a multiplex Crohn s disease family Whole Genome Sequencing
EGAS00001000769 Whole genome sequencing of 50 trios, where the child is affected with ID, and the parents are unaffected Other
EGAS00001000562 Whole genome sequencing of a Grem1 mutant human tumour Whole Genome Sequencing
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
EGAS00001001210 Whole Genome sequencing of adult T-cell leukemia/lymphoma Other
EGAS00001001023 Whole genome sequencing of ASD quartet families Other
EGAS00001000621 Whole Genome Sequencing of Asian Lung Cancers: Second Hand Smoke is Not Responsible for Higher Incidence of Lung Cancer Among Asian Never-Smokers Other
EGAS00001000505 Whole genome sequencing of chondrosarcoma Whole Genome Sequencing
EGAS00001001969 Whole genome sequencing of colon organoid cultures with artificially induced oncogenic mutations Other
phs000414.v1.p1 Whole genome sequencing of core-binding factor leukemia Case Set; Tumor vs. Matched-Normal; Whole Genome Sequencing
EGAS00001000065 Whole genome sequencing of Crohn s disease patients Whole Genome Sequencing
EGAS00001000008 Whole Genome Sequencing of hiPS cells Whole Genome Sequencing
EGAS00001000460 Whole Genome sequencing of individuals from Carlantino Italy Whole Genome Sequencing
EGAS00001000458 Whole Genome sequencing of individuals from Val Borbera Italy Whole Genome Sequencing
EGAS00001000252 Whole genome sequencing of Italian genetic isolates Friuli Venezia Giulia Whole Genome Sequencing
EGAS00001000671 Whole genome sequencing of Japanese HCCs Other
EGAS00001001323 Whole Genome Sequencing of JK Family Whole Genome Sequencing
EGAS00001002408 Whole Genome Sequencing of Liver Cancers Other
EGAS00001000169 Whole genome sequencing of matched primary and metastatic acral melanomas Cancer Genomics
EGAS00001000580 Whole genome sequencing of metastatic melanomas from a patient with primary resistance to BRAF inhibition Other
EGAS00001000222 Whole Genome Sequencing of Neuroblastoma Whole Genome Sequencing
phs000413.v1.p1 Whole Genome Sequencing of Pediatric Acute Megakaryoblastic Leukemia Case Set; Cohort; Tumor vs. Matched-Normal
EGAS00001000253 Whole genome sequencing of pediatric BCR-ABL1 positive acute lymphoblastic leukemia Whole Genome Sequencing
EGAS00001001552 Whole genome sequencing of primary and metastatic Melanoma cases in an Australian cohort. Other
EGAS00001000572 Whole genome sequencing of tumour and normal paired samples of diffuse intrinsic pontine gliomas Other
EGAS00001000885 Whole Genome Sequencing to track subclonal heterogeneity in 18 samples from 3 Chronic Lymphocytic Leukemia patients subjected to repeated cycles of therapy. Other
EGAS00001000472 Whole genome sequencing, SNP array and RNA-seq of uveal melanomas Other
EGAS00001000940 Whole genome study of Hurthle cell thyroid carcinoma Other
EGAS00001002294 Whole genome, whole exome, and targeted sequencing of high-grade meningioma tumor samples. Other
EGAS00001002597 Whole Genomes Define Concordance in Matched Primary, Xenograft, and Organoid Models of Pancreas Cancer Other
phs000374.v1.p1 Whole Genomic Sequencing of Nine Primary Colorectal Adenocarcinoma Tumor/Germline Pairs Case Set; Tumor vs. Matched-Normal; Whole Genome Sequencing
EGAS00001001858 Whole transcriptome and exome sequencing of childhood ALL Other
EGAS00001000661 Whole-exome analysis of corticotropin-independent Cushing's syndrome Other
EGAS00001001113 Whole-exome and targeted sequencing of pediatric hyperdiploid B-cell precursor acute lymphoblastic leukemia Other
EGAS00001000318 Whole-exome Sequencing Combined with Functional Genomics Reveals Novel Candidate Driver Cancer Genes in Endometrial Cancer Exome Sequencing
EGAS00001001695 Whole-exome sequencing of breast cancer metastasis and corresponding blood samples Other
EGAS00001001103 Whole-exome sequencing of Fanconi anemia Other
EGAS00001000149 Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency Exome Sequencing
EGAS00001002312 Whole-exome sequencing of PTC, benign nodule and normal tissues in 28 patients Other
EGAS00001000371 Whole-exome study to identify the causative germline mutations of congenital macrothrombocytopenia Exome Sequencing
phs000491.v1.p1 Whole-Genome and Exome Sequencing in clear-cell Renal Cell Carcinoma (ccRCC) Case Set
EGAS00001002212 Whole-genome low pass sequencing of 3,514 Sardinian individuals Other
EGAS00001001018 Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer Other
EGAS00001000381 Whole-genome sequencing analysis of low-grade astrocytomas within the ICGC PedBrain Tumor Project Whole Genome Sequencing
EGAS00001001487 Whole-genome sequencing in 14 cases and whole-exome sequencing in 90 cases of Chinese ESCC Other
EGAS00001000709 whole-genome sequencing in 17 ESCC cases and whole-exome sequencing in 71 cases Other
EGAS00001000664 Whole-Genome Sequencing of 128 Ashkenazi Jewish individuals Other
phs000159.v4.p2 Whole-Genome Sequencing of Acute Myeloid Leukemia Single Patient; Tumor vs. Matched-Normal
EGAS00001000738 Whole-genome sequencing of bladder cancers of various stages and grades to search for driver mutations, chromosome-scale somatic changes, mutation signatures and clonal structures. Other
EGAS00001000706 Whole-Genome sequencing of hepatocellular carcinomas Other
EGAS00001001849 Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region mutation and known pathogenic mutation in SPG11 Other
EGAS00001002275 Whole-genome Sequencing Suggests Mechanisms for 22q11.2 deletion-associated Parkinson’s disease Other
EGAS00001002344 Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome Other
EGAS00001000393 Whole-genome-Sequencing of adult medulloblastoma Whole Genome Sequencing
EGAS00001002190 Widespread DNA hypomethylation and differential gene expression in Turner syndrome Other
EGAS00000000043 WNT-signaling and Dupuytren's Disease GWAS
phs000200.v7.p2 Women's Health Initiative Clinical Trial and Observational Study Partial Factorial Randomized; Double-Blind; Placebo-Controlled; Cohort; Longitudinal
EGAS00000000018 WTCCC case-control study for Ankylosing Spondylitis GWAS
EGAS00000000019 WTCCC case-control study for Ankylosing Spondylitis - Combined Controls GWAS
EGAS00000000020 WTCCC case-control study for Autoimmune Thyroid Disease GWAS
EGAS00000000021 WTCCC case-control study for Autoimmune Thyroid Disease - Combined Controls GWAS
EGAS00000000001 WTCCC case-control study for Bipolar Disorder GWAS
EGAS00000000002 WTCCC case-control study for Bipolar Disorder - Combined Controls GWAS
EGAS00000000024 WTCCC case-control study for Breast cancer GWAS
EGAS00000000025 WTCCC case-control study for Breast cancer - Combined Controls GWAS
EGAS00000000003 WTCCC case-control study for Coronary Artery Disease GWAS
EGAS00000000004 WTCCC case-control study for Coronary Artery Disease - Combined Controls GWAS
EGAS00000000005 WTCCC case-control study for Coronary Artery Disease, Hypertension, T2D - combined cases GWAS
EGAS00000000009 WTCCC case-control study for Hypertension GWAS
EGAS00000000010 WTCCC case-control study for Hypertension - Combined Controls GWAS
EGAS00000000008 WTCCC case-control study for Inflammatory Bowel Disease, T1D and RA - combined cases GWAS
EGAS00000000022 WTCCC case-control study for Multiple Sclerosis GWAS
EGAS00000000023 WTCCC case-control study for Multiple Sclerosis - Combined controls GWAS
EGAS00000000011 WTCCC case-control study for Rheumatoid Arthritis GWAS
EGAS00000000012 WTCCC case-control study for Rheumatoid Arthritis - Combined Controls GWAS
EGAS00000000013 WTCCC case-control study for T1D and RA - combined cases GWAS
EGAS00000000027 WTCCC case-control study for Tuberculosis GWAS
EGAS00000000014 WTCCC case-control study for Type 1 Diabetes GWAS
EGAS00000000015 WTCCC case-control study for Type 1 Diabetes - Combined Controls GWAS
EGAS00000000016 WTCCC case-control study for Type 2 Diabetes GWAS
EGAS00000000017 WTCCC case-control study for Type 2 Diabetes - Combined Controls GWAS
EGAS00001001756 WTCCC2 Bacteraemia Susceptibility (BS) samples Other
EGAS00001000628 WTCCC2 BO (Barretts oesophagus) samples Other
EGAS00000000084 WTCCC2 case-control study for Ulcerative Colitis GWAS
EGAS00000000103 WTCCC2 Ischaemic Stroke study GWAS
EGAS00001000672 WTCCC2 People of the British Isles (POBI) genotypes Other
EGAS00000000121 WTCCC2 Pharmacogenomic Response to Statins study Genotypes & Phenotypes
EGAS00000000028 WTCCC2 project controls - 1958 British Birth Cohort and National Blood Service Population
EGAS00001000624 WTCCC2 project Glaucoma (GL) samples Other
EGAS00001000886 WTCCC2 Reading and Mathematics (RM) samples Other
EGAS00000000118 WTCCC2 Schizophrenia study Genotype
EGAS00001000773 WTCCC2 Visceral Leishmaniasis (VL) samples Other
EGAS00001000913 WTCCC3 Anorexia Nervosa Population Genomics
EGAS00001001266 WTCCC3 case control study for pre eclampsia Population Genomics
EGAS00000000039 WTCCC3 case-control study for Primary Biliary Cirrhosis GWAS
EGAS00001000140 Xenograft Sequencing Cancer Genomics
EGAS00001000317 xome sequencing of Congenital Heart Disease families Toronto Other
EGAS00001001231 Yemen and Chad Genotyping Cancer Genomics
EGAS00001001791 ZhongShan Hospital liver tumor single cell sequencing. Other
EGAS00000000082 ZNF703 is a common Luminal B breast cancer oncogene that differentially regulates luminal and basal progenitors in human mammary epithelium. Genotype/Expression