Mutation is the driver of evolution, the root of heritable diseases, and the initiator of tumors. We are interested in the mechanisms and timing of mutagenesis in the germline and somatic tissues as well as the causes and consequences of mutation rate variation. We are now particularly interested in DNA methylation-related mutations and are trying to understand the underlying mechanisms by comparisons across genomic regions and across species. To answer these questions, we integrate data from comparative genomics, human genetics, cancer genetics and developmental biology. 

Because genetic variation underlies heritable phenotypic variation among individuals, we can learn a great deal about human biology and disease by studying natural genetic variation present in the population. We are interested in elucidating the genetic architecture and evolution of complex traits in human populations and approach this by combining mathematical modeling and statistical analysis of genomic data.

We have developed methods to detect and quantify impacts of natural selection under diverse evolutionary scenarios, including beneficial polymorphisms maintained by balancing selection, disease variants under purifying selection, and quantitative traits under stabilizing selection. An ongoing effort in the lab is to develop novel computational methods to study natural selection in human populations by analyzing ancient and modern genetic variation jointly.