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DNA Sequencing Project

DNA Sequencing of NHLBI's Well-Phenotyped Population Cohorts to Identify Disease-causing Genetic Variants and Understand Biological Pathways

Scientific Opportunity
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)External Link Icon 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

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Steven Kelsen, M.D.
Professor of Medicine, Division of Pulmonary, Allergy, and Critical Care Medicine, Temple University School of Medicine, Philadelphia, Salim Merali, Ph.D. Associate Professor of Biochemistry; Director of the Proteomics Core, Temple University School of Medicine, Philadelphia, Pennsylvania Karina Davidson, Ph.D.; The Herbert Irving Associate Professor of Medicine and Psychiatry and Director of the Center for Behavioral Cardiovascular Health, Columbia University Medical Center, New York, New York Picture of Dr.Shuir with two other doctors Photo of Eric Schmidt Image of map; This map highlights a sampling of the NHLBI's support of its scientific community through the American Recovery and Reinvestment Act.