Steven McCarroll, Ph.D.

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Steven McCarroll, Ph.D.
Department of Genetics
Harvard Medical School
NRB 260J
77 Avenue Louis Pasteur
Boston, MA 02115
(617) 432-7794

We study how the human genome varies in structure and how such structural and copy-number variation influences molecular phenotypes in cells and disease risk in populations. We develop experimental technology for discovering and typing genome structural variants. We recently discovered large, common deletion polymorphisms that appear to influence body weight and Crohn's disease via regulatory effects on nearby genes, and are working to understand how these and other regulatory polymorphisms influence human phenotypes.