The main goals of our research program are to understand how evolutionary processes have shaped human genomes and to quantify the functional relevance of specific genetic differences between individual humans and closely related species. Achieving these goals is critically important to answering fundamental questions about human evolution and to the application of genomics in clinical settings.
We address these questions by applying algorithms and statistical models to ancient and modern genomes. We integrate large-scale genome-wide genotype and phenotype data, including electronic health record data. We also collaborate closely with clinicians and disease-focused biologists, in particular in the Undiagnosed Diseases Network and the March of Dimes Prematurity Research Center.
We have three specific research foci:
Modeling the genetics of recent human evolution and disease
Using machine learning to interpret gene regulatory “programs” encoded in genomes
Integrating population genetics and structural biology to enable personalized exome interpretation