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NHLBI TOPMed: Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study

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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.


Consent Codes


Focus / Diseases

Cardiovascular Diseases

Study Design

Prospective Longitudinal Cohort

Data Types

SNP/CNV Genotypes (NGS), WGS, De-novo Mutations (NGS)