Chief Data Officer and Institute Scientist
Co-Director, Eric and Wendy Schmidt Center
Broad Institute of MIT and Harvard
Anthony Philippakis is the chief data officer of the Broad
Institute of MIT and Harvard, and the co-director of the Eric and Wendy Schmidt Center.
He trained as a cardiologist at Brigham and Women’s Hospital, with
a focus on rare genetic cardiovascular diseases. At the Broad Institute he is
the founding director of the Data Sciences Platform, an organization of over
200 software engineers and computational biologists that develops software for
analyzing genomic and clinical data. In addition to his roles at the Broad
Institute and Brigham and Women’s Hospital, Philippakis is a venture partner at
GV, focusing on machine learning, distributed computing, and genomics.
Philippakis received his M.D. from Harvard Medical School and
completed a Ph.D. in biophysics at Harvard. As an undergraduate, he studied
mathematics at Yale University, and later completed the Part III (equivalent to
M.Phil.) in mathematics at Cambridge University.
Chief Data Officer and Institute Scientist
Co-Director, Eric and Wendy Schmidt Center
Broad Institute of MIT and Harvard
Anthony Philippakis is the chief data officer of the Broad
Institute of MIT and Harvard, and the co-director of the Eric and Wendy Schmidt Center.
He trained as a cardiologist at Brigham and Women’s Hospital, with
a focus on rare genetic cardiovascular diseases. At the Broad Institute he is
the founding director of the Data Sciences Platform, an organization of over
200 software engineers and computational biologists that develops software for
analyzing genomic and clinical data. In addition to his roles at the Broad
Institute and Brigham and Women’s Hospital, Philippakis is a venture partner at
GV, focusing on machine learning, distributed computing, and genomics.
Philippakis received his M.D. from Harvard Medical School and
completed a Ph.D. in biophysics at Harvard. As an undergraduate, he studied
mathematics at Yale University, and later completed the Part III (equivalent to
M.Phil.) in mathematics at Cambridge University.
Journal article
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a multitude of coding and non-coding variants. They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role in WGS analysis, result interpretation, and prioritization of disease- or trait-associated causal variants. Existing functional annotation databases have limited scope to perform online queries and functionally annotate the...
Journal article
CONCLUSIONS: Combined monogenic and polygenic assessments for CAD risk provided by preventive genomics clinics are beneficial for patients and result in changes in management in a significant portion of patients.
