Our research focuses on the development and use of translational and biomedical informatics approaches to address critical challenges in systems medicine and biomedical informatics. We are interested in identifying and developing novel therapeutic and diagnostic approaches for human disease through integration and analysis of molecular and clinical data, and also perform research to develop and evaluate methods to incorporate genomic sequencing data into clinical practice. See information on specific research projects or browse our publications for more details.
Systematic functional regulatory assessment of disease-associated variants. Karczewski KJ*, Dudley JT*, Kaburka K, Chen R, Montgomery S, Butte AJ, Snyder M. PNAS (2013) [See more]
July 1, 2012 - We are hiring! Several open positions are available for research scientists in Biomedical Informatics. See the Positions page for more details on requirements and how to apply.