We seek to understand the mechanistic basis of human disease, using a combination of computational and experimental techniques.

Our techniques involve developing methods for the systematic discovery and characterization of functional elements in the human genome, the discovery and validation of the gene-regulatory circuitry controlling these elements, the use of epigenomic information for annotating regulatory regions and their activity across different cell types, and the use of comparative genomics for recognizing coding and non-coding regions of functional importance for evolutionary fitness. Topics include variation and disease, genome interpretation, gene regulation, epigenomics, and genome evolution.

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