Our research group studies the statistical genetics of Mendelian disorders. We focus on two major application areas: methods to assess the pathogenicity of genomic variants and the clinical application of predictive algorithms in genomics. These applications draw on approaches that enable unprecedented extraction of information from existing data sources.

Healthy individuals carry hundreds of genetic variants that have been previously associated with disease, and there is a pressing need to distinguish between causal variants and those that are either incompletely penetrant or false positives. As part of this research program, we have helped develop algorithms to computationally assess the clinical impact of genetic variants using previously unused population health datasets and machine learning approaches. This work is translated into patient care in the Brigham Genomic Medicine Program.