ID
45892
Description
Principal Investigator: Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA MeSH: Cardiovascular Diseases,Atherosclerosis,Atrial Fibrillation,Death, Sudden, Cardiac,Diabetes Mellitus, Type 2,Heart Failure,Blood Pressure,Hypertension,Body Mass Index,Adiposity,Lipids,Pulmonary Disease, Chronic Obstructive,Renal Insufficiency, Chronic,Stroke,Osteoporosis,Risk Factors,Biological Markers,Biomarkers, Pharmacological https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000974 The Framingham Heart Study (FHS) is a prospective cohort study of 3 generations of subjects who have been followed up to 65 years to evaluate risk factors for cardiovascular disease. Its large sample of ~15,000 men and women who have been extensively phenotyped with repeated examinations make it ideal for the study of genetic associations with cardiovascular disease risk factors and outcomes. DNA samples have been collected and immortalized since the mid-1990s and are available on ~8000 study participants in 1037 families. These samples have been used for collection of GWAS array data and exome chip data in nearly all with DNA samples, and for targeted sequencing, deep exome sequencing and light coverage whole genome sequencing in limited numbers. Additionally, mRNA and miRNA expression data, DNA methylation data, metabolomics and other 'omics data are available on a sizable portion of study participants. This project will focus on deep whole genome sequencing (mean 30X coverage) in ~4100 subjects and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Comprehensive phenotypic and pedigree data for study participants are available through dbGaP phs000007.
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Versions (1)
- 12/1/23 12/1/23 - Simon Heim
Copyright Holder
Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
Uploaded on
December 1, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000974 NHLBI TOPMed: Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and project, source repository where subjects originated, and sequencing control indicator.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and project, source repository where subjects originated, and sequencing control indicator.
C0680251 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,2])
C0205410 (UMLS CUI [1,3])
C0012854 (UMLS CUI [1,4])
C1294197 (UMLS CUI [1,5])
C3640076 (UMLS CUI [1,6])
C0242802 (UMLS CUI [1,7])