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Previous Volume 360:1699-1701 April 23, 2009 Number 17 Next

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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 . . . [Full Text of this Article]

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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.

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

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