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Genomewide Association Studies — Illuminating Biologic Pathways

  • Joel N. Hirschhorn, M.D., Ph.D.

This article has no abstract; the first 100 words appear below.

Human geneticists seek to understand the inherited basis of human biology and disease, aiming either to gain insights that could eventually improve treatment or to produce useful diagnostic or predictive tests. As recently as 2004, few genetic variants were known to reproducibly influence common polygenic diseases (including cancer, coronary artery disease, and diabetes) or quantitative phenotypes (including lipid levels and blood pressure). This relative ignorance limited potential insights into the pathophysiology of common diseases.The completion of the human genome sequence in 2005 and the provision of an initial catalogue of human genetic variation and a haplotype map (known as . . .

Funding and Disclosures

Dr. Hirschhorn reports receiving consulting fees from Correlagen and Ipsen, having an equity interest in Correlagen, receiving lecture fees from Pfizer, and receiving grant support from Novartis. No other potential conflict of interest relevant to this article was reported.

This article (10.1056/NEJMp0808934) was published at NEJM.org on April 15, 2009.

Author Affiliations

Dr. Hirschhorn is an associate professor in the Program in Genomics and the Divisions of Genetics and Endocrinology, Children's Hospital, Boston; an associate professor of genetics at Harvard Medical School, Boston; and an associate member and coordinator of the Metabolism Initiative at the Broad Institute of Harvard and MIT, Cambridge, MA.

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