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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

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