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  1. Genetic Associations in Idiopathic Talipes Equinovarus (GAIT) dbGaP

    ID: phs000314.v1.p1

    Description: Isolated clubfoot or idiopathic talipes equinovarus (ITEV) is one of the five most common birth defects, affecting approximately 4,000 newborns each y...

  2. Framingham Cohort dbGaP

    ID: phs000007.v21.p8

    Description: Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the F...

    Study Types: Longitudinal

  3. Genetic Epidemiology of COPD (COPDGene) dbGaP

    ID: phs000179.v3.p2

    Description: Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of death in the United States and the only leading cause of death that is ste...

    Study Types: Case-Control

  4. Genome-Wide Analysis of Chronic Lymphocytic Leukemia dbGaP

    ID: phs000364.v2.p1

    Description: Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation The pathogenesis of chronic lymphocytic leukemia (CLL...

    Study Types: Tumor vs. Matched-Normal

  5. Cardiovascular Health Study (CHS) Cohort dbGaP

    ID: phs000287.v5.p1

    Description: Objectives The Cardiovascular Health Study (CHS) is a study of risk factors for development and progression of CHD and stroke in people aged 65 years ...

    Study Types: Longitudinal

  6. Foregut Microbiome in Development of Esophageal Adenocarcinoma dbGaP

    ID: phs000260.v2.p1

    Description: The distal esophagus is an important anatomical area where gastric acid reflux can cause reflux esophagitis (RE), Barrett's esophagus (BE) (intes...

    Study Types: Case-Control

  7. PGRN-RIKEN: Genome-Wide Association Study of Drug-Induced Long-QT Syndrome dbGaP

    ID: phs000331.v1.p1

    Description: The goal of this study was to identify genetic risk factors for drug-induced prolongation of the QT interval (diLQT) and the ventricular arrhythmia ...

    Study Types: Case-Control

  8. Whole-genome sequencing in multiplex epilepsy families dbGaP

    ID: phs000690.v1.p1

    Description: Epilepsy is one of the most common neurologic disorders, affecting approximately 4% of individuals at some time in their lives. More than 30% of peopl...

    Study Types: Family

  9. Melanoma Genome Sequencing Project dbGaP

    ID: phs000452.v2.p1

    Description: Melanoma is the most prevalent cause of skin cancer morbidity and mortality. In order to characterize the full range of somatic mutations that may dri...

    Study Types: Case Set

  10. Temporal Dissection of Tumorigenesis in Primary Cancers dbGaP

    ID: phs000418.v2.p1

    Description: The earliest genetic abnormalities in cancer represent a unique opportunity for timely clinical diagnosis. Classic deep sequencing of tumors identifie...

    Study Types: Tumor vs. Matched-Normal

  11. Somatic Reference Standard for Cancer Sequencing dbGaP

    ID: phs000932.v1.p1

    Description: In this study, we separately performed PCR-free whole genome sequencing on the paired tumor/normal melanoma COLO-829 and lymphoblastoid COLO-829BL cel...

    Study Types: Tumor vs. Matched-Normal

  12. Multi-Ethnic Study of Atherosclerosis (MESA) Cohort dbGaP

    ID: phs000209.v12.p3

    Description: MESA The Multi-Ethnic Study of Atherosclerosis (MESA) is a study of the characteristics of subclinical cardiovascular disease (disease detected non-in...

  13. Whole Genome Sequencing of Triple Negative Breast Cancer dbGaP

    ID: phs000245.v1.p1

    Description: Breast Cancer Subject Participant ID 700064 (Source Sample names: 6888 and 206). We used massively parallel DNA sequencing technologies to screen e...

  14. Geisinger eMERGE - MyCode Project dbGaP

    ID: phs000381.v1.p1

    Description: A research cohort of adult Geisinger Clinic patients was enrolled from community-based primary care clinics of the Geisinger Health System. Patie...

    Study Types: Control Set

  15. NIDDK IBDGC Crohn's Disease Genome-Wide Association Study dbGaP

    ID: phs000130.v1.p1

    Description: This dataset contains data from a genome-wide association study performed with 968 Inflammatory Bowel Disease (IBD) affected cases and 995 unrelat...

    Study Types: Case-Control

  16. Genome-Wide Association Study of Schizophrenia dbGaP

    ID: phs000021.v3.p2

    Description: The goal of the study is to find susceptibility genes for schizophrenia. Dataset versioning Version 1: European-American (EA) ancestry only...

    Study Types: Case-Control

  17. Transcriptome Profile of Endothelial Cells in PAH Patients vs Controls dbGaP

    ID: phs000998.v1.p1

    Description: The transcriptome of pulmonary arterial endothelial cells from healthy lungs and from lungs of patients with idiopathic pulmonary arterial hypertensio...

    Study Types: Case-Control

  18. Inflammatory Bowel Disease Exome Sequencing Study dbGaP

    ID: phs001076.v1.p1

    Description: The Broad Institute and Massachusetts General Hospital (MGH) are launching a new initiative to perform large-scale exome sequencing in inflammatory bo...

  19. Cholesterol and Pharmacogenetics (CAP) Study dbGaP

    ID: phs000481.v1.p1

    Description: The Cholesterol and Pharmacogenetics Study was a 6-week open label, non-randomized study of 40mg/day simvastatin treatment in 944 African-American and...

    Study Types: Clinical Trial

  20. Jackson Heart Study (JHS) Cohort dbGaP

    ID: phs000286.v4.p1

    Description: The Jackson Heart Study (JHS) is a large, community-based, observational study whose participants were recruited from urban and rural areas of the thr...

    Study Types: Cohort

  21. Whole Genome Sequencing of Two 22q11DS Trios dbGaP

    ID: phs000837.v1.p1

    Description: Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate gene...

    Study Types: Parent-Offspring Trios

  22. PD-1 Blockade in Non-Small Cell Lung Cancer dbGaP

    ID: phs000980.v1.p1

    Description: Patients with non-small cell lung cancer were treated with pembrolizumab. Their tumors and matched normal blood were sequenced.

  23. GENEVA Diabetes Study (NHS/HPFS) dbGaP

    ID: phs000091.v2.p1

    Description: Type 2 diabetes mellitus (T2D) affects approximately 21 million individuals in the U.S., or almost 10% of the U.S. adult population. Because diabete...

    Study Types: Nested Case-Control

  24. Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing dbGaP

    ID: phs000473.v2.p2

    Description: Current findings of the genetic risk of schizophrenia and bipolar disorder emerging from genome wide association studies (GWAS) support a highly polyg...

    Study Types: Case-Control

  25. Jackson Heart Study (JHS) Cohort dbGaP

    ID: phs000286.v5.p1

    Description: The Jackson Heart Study (JHS) is a large, community-based, observational study whose participants were recruited from urban and rural areas of the thr...

    Study Types: Cohort

  26. POPRES: Population Reference Sample dbGaP

    ID: phs000145.v2.p2

    Description: Technological and scientific advances, stemming in large part from the Human Genome and HapMap projects, have made large-scale, genome-wide investig...

  27. The Familial Intracranial Aneurysm Linkage Study (FIA) dbGaP

    ID: phs000293.v1.p1

    Description: Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in...

    Study Types: Family Linkage

  28. Gut Microbiome Profiles and Risk of Colorectal Cancer dbGaP

    ID: phs000884.v1.p1

    Description: Findings from recent studies suggest that the community of microbes residing in the human body is important in disease etiology; however, it remains u...

  29. Hypoplastic Left Heart Syndrome Study dbGaP

    ID: phs001256.v1.p1

    Description: To understand the genetic etiology of hypoplastic left heart syndrome (HLHS), patients with HLHS were consented and recruited, with blood drawn for DN...

    Study Types: Case-Control

  30. Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in the NICU dbGaP

    ID: phs000564.v1.p1

    Description: Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3...

  31. CIDR Whole Exome sequencing of multiplex cleft families dbGaP

    ID: phs000459.v1.p1

    Description: Building upon our previous linkage and association studies, we will use whole exome sequencing studies of second and third degree affected relatives d...

  32. NCI Genome-Wide Association Study of Renal Cell Carcinoma dbGaP

    ID: phs000351.v1.p1

    Description: The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic va...

  33. GWAS of Breast Cancer in the African Diaspora dbGaP

    ID: phs000383.v1.p1

    Description: The paucity of data on the genetic epidemiology of breast cancer for racial/ethnic groups other than those of European ancestry hinders the develo...

    Study Types: Case-Control

  34. Genetic Basis of XMEN Disease dbGaP

    ID: phs000365.v1.p1

    Description: The etiologies of primary immunodeficiencies often yield novel insights about the immune system. Although a genetic etiology has been suspected fo...

    Study Types: Case-Control

  35. Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) dbGaP

    ID: phs000649.v1.p1

    Description: This is a prospective, multicenter, randomized, open-label, parallel-group study to evaluate pharmacogenomic responses to antihypertensives. The prima...

  36. NHLBI TOPMed: Partners HealthCare Biobank dbGaP

    ID: phs001024.v1.p1

    Description: The Atrial Fibrillation Genetics Consortium (AFGen) was organized to identify common and rare genetic variation associated with atrial fibrillation ri...

    Study Types: Case Set

  37. Yale Center for Mendelian Genomics (Y CMG) dbGaP

    ID: phs000744.v2.p1

    Description: Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the...

    Study Types: Mixed

  38. Dental Caries GWAS dbGaP

    ID: phs000095.v2.p1

    Description: Dental caries (also known as tooth decay) remains the most common chronic disease of childhood, five times more common than asthma and seven times mor...

  39. University of Washington Center for Mendelian Genomics (UW CMG) dbGaP

    ID: phs000693.v1.p1

    Description: The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underl...

    Study Types: Multicenter

  40. RAD50 Hypomorphism as Basis for Response to Chemotherapy dbGaP

    ID: phs000706.v1.p1

    Description: Outlier analyses represent a versatile method to identify predictive biomarkers of response to both targeted agents and chemotherapy. We performed who...

    Study Types: Case Set

  41. CCHMC-eMERGE-Phase IIIA dbGaP

    ID: phs001011.v1.p1

    Description: This submission includes genotyping or sequencing data from separate cohorts, each is described in separate paragraphs below. Extreme early onset obes...

  42. HIV-Resistant People with Hemophilia dbGaP

    ID: phs000445.v1.p1

    Description: Rare individuals are highly resistant to infection with human immunodeficiency virus (HIV). Studies of candidate genes resulted in the discovery of a ...

    Study Types: Case-Control

  43. CTLA4 haploinsufficiency and immune dysregulation dbGaP

    ID: phs000797.v1.p1

    Description: We identified germline heterozygous mutations in CTLA4 in members of four families with severe immune dysregulation. Human CTLA4 haploinsufficiency ca...

    Study Types: Case Set

  44. An APOBEC Cytidine Deaminase Mutagenesis in Human Cancers dbGaP

    ID: phs000677.v1.p1

    Description: Reprinted from Roberts et al. "An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers", Nature Genetics, 45:970-976, 2013, wi...

    Study Types: Meta-Analysis

  45. Whole-Genome Sequencing of Acute Myeloid Leukemia dbGaP

    ID: phs000159.v5.p3

    Description: We used massively parallel sequencing technology to sequence the genomic DNA of tumor cells (leukemic bone marrow) and normal cells (skin biopsy) obta...

  46. NHLBI GO-ESP: Early-Onset Myocardial Infarction (Broad EOMI) dbGaP

    ID: phs000279.v1.p1

    Description: The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identif...

  47. CATHeterization GENetics (CATHGEN) dbGaP

    ID: phs000703.v1.p1

    Description: The CATHGEN biorepository consists of biological samples collected on 9334 sequential consenting individuals undergoing cardiac catheterization at Duk...

    Study Types: Longitudinal

  48. University of Washington Center for Mendelian Genomics (UW CMG) dbGaP

    ID: phs000693.v2.p1

    Description: The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underl...

    Study Types: Multicenter

  49. Starr County Health Studies' Genetics of Diabetes Study dbGaP

    ID: phs000143.v1.p1

    Description: An initial observation in the 1970s that Starr County, Texas, had the highest diabetes-specific mortality of any of the 254 Texas counties led to the...

    Study Types: Case-Control

  50. Dental Caries GWAS dbGaP

    ID: phs000095.v3.p1

    Description: Dental caries (also known as tooth decay) remains the most common chronic disease of childhood, five times more common than asthma and seven times mor...


Displaying 50 of 79,180 results for " "