Focus Areas in the Genomic Medicine Cycle
Major leadership positions
Genome Aggregation Database (gnomAD) Steering Committee
Genomic Medicine Unit
Analytic and Translational Genetics Unit (affiliate)
Studying patterns of rare variation in large genomic sequencing datasets.
Our group studies patterns of rare genetic variation in large collections of human genomic data, both from patients and reference population individuals, and designs tools and methods to help interpret that variation. We are focused on moving from studying single variants at a time to understanding how they impact disease in their genomic context. In particular, we have been working on methods to identify selectively constrained genomics regions, improve rare variant interpretation, and associate rare variation with disease.
- Improving measures of selective constraint on missense variants and identifying regions within genes that are specifically depleted of missense variation
- Understanding how multiple rare variants act together to influence risk for disease
- Incorporating functional and structural information into our measures of selective constraint