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Gene Regulation and Common Disease

To date, hundreds of genome-wide association studies have been conducted, spanning diverse diseases and quantitative phenotypes. However, the vast majority of disease- or trait-associated variants emerging from these studies fall within non-coding sequence, complicating their functional evaluation. Recent work indicates that a majority of such variants fall within regulatory DNA marked by DNaseI hypersensitive sites.

A major focus of the lab is to map the regulatory circuits perturbed by disease-associated variation, and to develop integrated models of common disease that can inform disease diagnosis and therapy.