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  1. Tyrosine Kinase Mutations in Endometrial Cancer dbGaP

    ID: phs000841.v1.p1

    Description: The purpose of the original study was to search for somatic mutations in the tyrosine kinome of serous and clear cell endometrial carcinomas (human). ...

    Study Types: Case Set

  2. Geisinger eMERGE - Abdominal Aortic Aneurysm Project (AAAP) dbGaP

    ID: phs000387.v1.p1

    Description: A large research cohort of Geisinger Abdominal Aortic Aneurysm (AAA) patients was created by enrolling and consenting patients of the Geisinger De...

    Study Types: Case Set

  3. The Placenta Harbors a Unique Microbiome dbGaP

    ID: phs000735.v1.p1

    Description: This study is to investigate placental microbiome through 16S rDNA-based and whole genome shotgun metagenomic sequencing. Identified taxa and their ge...

    Study Types: Case-Cohort

  4. Discovery of Novel Melanoma Predisposing Mutations by Exome Sequencing dbGaP

    ID: phs000823.v1.p1

    Description: Melanoma risk shows clear heritability, but the inherited genetic factors remain largely unknown. Rare high risk mutations in CDKN2A, CDK4, BAP1 and T...

    Study Types: Case Set

  5. Genome Wide Association for Asthma and Lung Function dbGaP

    ID: phs000355.v1.p1

    Description: The SNP Typing for Association with Multiple Phenotypes from Existing Epidemiologic (STAMPEED) asthma project includes subjects with asthma and c...

    Study Types: Case-Control

  6. NCI GWAS of Renal Cell Carcinoma in African Americans dbGaP

    ID: phs000863.v1.p1

    Description: The NCI GWAS of renal cell carcinoma (RCC) in African Americans was undertaken to provide insight into genetic loci affecting susceptibility to this m...

    Study Types: Case-Control

  7. Integrative Clinical Sequencing Analysis of Metastatic Castration Resistant Prostate Cancer Reveals a High Frequency of Clinical Actionability dbGaP

    ID: phs000915.v1.p1

    Description: Most prostate cancer deaths are caused by metastatic, castration resistant disease (mCRPC). To develop a precision medicine framework for mCRPC, we es...

  8. Framingham SHARe Social Network dbGaP

    ID: phs000153.v7.p6

    Description: Note: Data Use Restrictions: The data must only be used for genetic research projects solely in the area of health-related social-network research. ...

    Study Types: Longitudinal

  9. Characterization of Pancreatic Adenocarcinoma Patients Using NGS dbGaP

    ID: phs000550.v1.p1

    Description: In this study, we whole genome sequenced tumor/normal pairs from three pancreatic adenocarcinoma patients to separately characterize each patient with...

    Study Types: Case Set

  10. Pancreatic Cancer Cohort and Case-Control Consortium (PanScan) dbGaP

    ID: phs000206.v5.p3

    Description: Within the framework of the NCI-sponsored Cohort Consortium, investigators from 12 prospective epidemiologic cohorts formed the Pancreatic Cancer Coho...

  11. Gene Mutation and Rescue in Congenital Diaphragmatic Hernia dbGaP

    ID: phs000485.v1.p1

    Description: Congenital Diaphragmatic Hernia (CDH) is a common and life-threatening malformation. The most common phenotype is left-sided posterolateral (Bochdalek...

  12. Patient-Specific Factors Influence Somatic Variations in VHL Tumors dbGaP

    ID: phs001107.v1.p1

    Description: Patients affected with von Hippel-Lindau disease are at risk of developing multiple independent clear cell renal carcinomas. This study performed whol...

    Study Types: Tumor vs. Matched-Normal

  13. Whole-Genome and Exome Sequencing in Clear-Cell Renal Cell Carcinoma dbGaP

    ID: phs000491.v1.p1

    Description: Study to evaluate the molecular genetics of ccRCC through integrative analyses of tumors and tumorgrafts using multiple platforms in clinically annota...

    Study Types: Case Set

  14. The Genomics and Randomized Trials Network (GARNET) Vitamin Intervention Stroke Prevention (VISP) trial dbGaP

    ID: phs000343.v1.p1

    Description: The VISP trial (PI Jim Toole, M.D., Wake Forest University School of Medicine) was a multi-center, double-blind, randomized, controlled clinical tria...

  15. NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy) dbGaP

    ID: phs000581.v1.p1

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

    Study Types: Case Set

  16. DRIVE Breast Cancer OncoArray Genotypes dbGaP

    ID: phs001265.v1.p1

    Description: Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) was one of five projects funded in 2010 as part of the NCI's Genetic A...

  17. Genome Variations Among the Aboriginals in Malaysia dbGaP

    ID: phs000664.v1.p1

    Description: Copy number variation (CNV) has been recognized as a major contributor to human genome diversity. It plays an important role in determining phenotypes...

    Study Types: Population

  18. Comparison of custom capture for targeted next generation DNA sequencing dbGaP

    ID: phs000811.v1.p1

    Description: Targeted, capture-based DNA sequencing is an economical way to sequence a customized region of the genome. Several targeted sequencing kits are availa...

  19. HeLa Cell Genome Sequencing Studies dbGaP

    ID: phs000640.v3.p1

    Description: This study contains all authorized whole genome sequence data of the HeLa cell line from datasets currently in dbGaP. These data have been approved fo...

    Study Types: Whole Genome Sequencing

  20. Comparative Analysis of Primary and Metastatic Colorectal Cancer dbGaP

    ID: phs000790.v1.p1

    Description: Molecular profiling for somatic mutations that predict response to anti-EGFR therapy in colorectal cancer (CRC) has become standard practice. However,...

    Study Types: Cohort

  21. Genetic Heterogeneity of Diffuse Large B Cell Lymphoma dbGaP

    ID: phs000573.v1.p1

    Description: We sequenced exomes of 94 DLBCL tumors and cell lines. 34 of the tumors had paired normal tissue. Our work elucidates commonly occurring gene-coding m...

    Study Types: Case-Control

  22. Characterization of a Metastatic Cervical Cancer Using NGS dbGaP

    ID: phs000628.v1.p1

    Description: In this study, we used shallow whole genome, exome, and RNA sequencing to genomically and transcriptomically characterize a cervical squamous carcinom...

    Study Types: Case Set

  23. Follicular Lymphoma 2013 - Malek dbGaP

    ID: phs000729.v1.p1

    Description: A cohort of follicular lymphoma cases had tumor cells purified from tissue samples after informed consent using flow cytometry. DNA was extracted from...

    Study Types: Case Set

  24. CIDR Whole Exome Sequencing in Joubert Syndrome dbGaP

    ID: phs000382.v2.p1

    Description: The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndr...

  25. Longitudinal Study of the Porphyrias dbGaP

    ID: phs001278.v1.p1

    Description: This is an observational, longitudinal study of approximately 800 individuals with various types of porphyria. Those participants will be evaluated an...

    Study Types: Longitudinal

  26. Whole Exome Sequencing of Diffuse Large B-Cell Lymphoma dbGaP

    ID: phs000450.v2.p1

    Description: We performed massively parallel whole exome sequencing of 55 primary tumor samples from patients with diffuse large B cell lymphoma (DLBCL) and matche...

  27. Longitudinal Studies of Brain Structure and Function in MPS Disorders dbGaP

    ID: phs001328.v1.p1

    Description: Mucopolysaccharidosis (MPS) types I, II, IV, VI and VII, are inherited diseases that result from the bodies inability to break down large sugar molecu...

    Study Types: Longitudinal

  28. Genome-Wide Association Study of Endometrial Cancer in E2C2 dbGaP

    ID: phs000893.v1.p1

    Description: Endometrial cancer, the most common gynecological malignancy in the United States, has both an environmental and genetic component. To this end, we co...

  29. The Genetic Landscape of Metastasis and Recurrence in HNSCC dbGaP

    ID: phs001007.v1.p1

    Description: Recurrence and/or metastasis occur in more than half of patients with head and neck squamous cell carcinoma (HNSCC) and pose the greatest threats to l...

    Study Types: Case Set

  30. Shanghai Breast Cancer Genetics Study (SBCGS) dbGaP

    ID: phs000799.v1.p1

    Description: The Shanghai Breast Cancer Genetics Study (SBCGS) includes data from four population-based studies conducted among Chinese women in urban Shanghai: th...

    Study Types: Case-Control

  31. Somatic Mutations in Variant and IGHV4-34 Expressing Hairy Cell Leukemia dbGaP

    ID: phs000671.v1.p1

    Description: To understand the genetic mechanisms driving variant and IGHV4-34 expressing hairy-cell leukemia, we performed whole exome sequencing of tumor/normal ...

  32. Study of Human Developmental Neurogenesis dbGaP

    ID: phs000989.v2.p1

    Description: We sought to characterize cellular heterogeneity in the human cerebral cortex at a molecular level during cortical neurogenesis. We captured single ce...

    Study Types: Cohort

  33. GWAS for Genetic Determinants of Bone Fragility dbGaP

    ID: phs000138.v2.p1

    Description: Osteoporotic fractures are largely due to an increased propensity to fall with aging and a reduction in bone strength. Although skeletal architectur...

    Study Types: Quantitative Cross-Sectional

  34. Neutralizing Antibodies against West Nile Virus from Human B Cells dbGaP

    ID: phs001200.v1.p1

    Description: West Nile virus (WNV) infection is a mosquito-borne disease that can cause severe neurological illness. We analyzed the humoral response to WNV of sub...

    Study Types: Case Set

  35. Thoracic Patient-Derived Xenografts dbGaP

    ID: phs001192.v1.p1

    Description: Targeted capture sequencing of 341 cancer associated genes in thoracic patient-derived xenografts.

    Study Types: Case Set

  36. POLYGEN dbGaP

    ID: phs000368.v1.p1

    Description: PCOS is a complex genetic disease reflecting the interplay of susceptibility genes and environmental factors. The cardinal reproductive feature of...

    Study Types: Case-Control

  37. International Consortium for Blood Pressure (ICBP) dbGaP

    ID: phs000585.v2.p1

    Description: The ICBP consortium is an international effort to investigate blood-pressure genetics. The consortium was formed by two parent consortia, the CHARGE-B...

    Study Types: Meta-Analysis

  38. Genetic Basis of Pulmonary Non-tuberculous Mycobacterial Infections dbGaP

    ID: phs000719.v1.p1

    Description: This project aims at characterizing the human host susceptibility to pulmonary non-tuberculous mycobacterial (PNTM) infections. PNTM infections occur ...

    Study Types: Family

  39. CIP: Differential Response to Hydroxyurea and Incidence of Stroke in Sickle Cell Disease dbGaP

    ID: phs000691.v2.p1

    Description: Sickle cell disease (SCD) is a severe debilitating hematological disorder associated with a high degree of morbidity and mortality. There are approxim...

    Study Types: Case-Control

  40. 1000 Genomes Used for Cloud Testing dbGaP

    ID: phs000710.v1.p1

    Description: This study provides public access to a demonstration subset of 1000 genomes sequence data in dbGaP. It is intended to be used by software developers w...

    Study Types: Reference Set

  41. NCI Lung Cancer and Smoking Phenotypes in African-American Subjects dbGaP

    ID: phs001210.v1.p1

    Description: This is a two-stage case-control study designed to evaluate the association between common genetic variants and the risk of lung cancer. The stage 1 s...

  42. IPM BioBank GWAS dbGaP

    ID: phs000388.v1.p1

    Description: The Institute for Personalized Medicine (IPM) Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Med...

    Study Types: Case-Control

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

    ID: phs000209.v13.p3

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

  44. University of Miami Study on Genetics of Autism and Related Disorders (AutismDisorders) dbGaP

    ID: phs000436.v1.p1

    Description: Autism spectrum disorders (ASD) are neurodevelopmental in origin and characterized by impairments in reciprocal social interaction and communication a...

    Study Types: Multiplex Families

  45. PGRN-RIKEN: Identification of Genetic Predictors of ACE Inhibitor-Associated Angioedema dbGaP

    ID: phs000438.v1.p1

    Description: The purpose of this study is to identify genetic predictors of ACE inhibitor-associated angioedema. In addition to preventing the formation of the pre...

    Study Types: Case-Control

  46. Transdisciplinary Research Into Cancer of the Lung (TRICL) dbGaP

    ID: phs000876.v1.p1

    Description: The study was conducted under the auspices of the Transdisciplinary Research In Cancer of the Lung (TRICL) Research Team, which is a part of the Genet...

    Study Types: Case-Control

  47. Identification of Targetable FGFR Gene Fusions in Diverse Cancers dbGaP

    ID: phs000602.v1.p1

    Description: In this study, patients with advanced cancer across all histologies were enrolled in our IRB approved clinical sequencing program, called MI-ONCOSEQ, ...

    Study Types: Case Set

  48. Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency dbGaP

    ID: phs000266.v2.p1

    Description: The NIH Intramural Skin Microbiome Consortium (NISMC) is a collaboration of investigators with primary expertise in genomics, bioinformatics, large-s...

  49. Framingham Cohort dbGaP

    ID: phs000007.v29.p10

    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

  50. Resource for Genetic Epidemiology Research on Adult Health and Aging (GERA) dbGaP

    ID: phs000674.v1.p1

    Description: The Resource for Genetic Epidemiology Research on Aging (GERA) Cohort was created by a RC2 "Grand Opportunity" grant that was awarded to the Kaiser Pe...

    Study Types: Cohort

  51. 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...

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. 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...

  63. 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...

  64. 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

  65. 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

  66. 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

  67. 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

  68. 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...

  69. 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

  70. 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

  71. 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

  72. 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.

  73. 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

  74. 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

  75. 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

  76. 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...

  77. 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

  78. 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...

  79. 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

  80. 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...

  81. 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...

  82. 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...

  83. 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

  84. 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

  85. 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...

  86. 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

  87. 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

  88. 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...

  89. 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

  90. 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

  91. 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...

  92. 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

  93. 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

  94. 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

  95. 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...

  96. 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...

  97. 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

  98. 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

  99. 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

  100. 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...


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