DNA Sequencing Project
DNA Sequencing of NHLBI's Well-Phenotyped Population Cohorts to Identify Disease-causing Genetic Variants and Understand Biological Pathways
Genome-wide association studies (GWAS) have been successful in identifying high-frequency genetic variants of modest effect size that are associated with numerous common complex traits and diseases, including myocardial infarction, stroke, diabetes, obesity, hypertension, chronic pulmonary disease, and anemia. However, GWAS are incapable of identifying specific disease-causing genetic variants, especially those with lower frequency and potentially larger effects. Finding those variants requires large-scale DNA sequencing of the genomes of thousands of individuals from well-phenotyped populations. With recent technological advances, the feasibility of such a project is now within the NHLBI's reach.
This NHLBI Recovery Act investment could offer long-term scientific return as an NIH-wide commitment to sequence the exomes (the parts of a genome that produce proteins) of participants in the
Framingham Heart Study (FHS) and those in other longitudinal studies supported by the NHLBI.
Fact Sheet on the NHLBI's
Large-Scale DNA Sequencing Project
Last Updated February 22, 2010