Data generated by the rapidly advancing DNA sequencing technology provide the complete picture of population genetic variation and sequence divergence between species. We have been focused on the analysis of systematic re-sequencing datasets with the goal to understand the origin of human mutations and their effect on molecular function, fitness and phenotype. We analyze data on human genetic variation in light of classic population genetics models, estimate parameters of demographic history and distribution of fitness effects of mutations in the human genome. We develop computational methods for predicting the effect of mutations and SNPs on function using comparative genomics, protein structure and functional genomics data. We further apply the knowledge gained to medical genetics studies in collaboration with medical genetics groups. The applications range from clinical genetic diagnostics to large-scale sequencing studies of well-phenotyped populations. Thus, evolutionary models, functional predictions and statistical methods for the analysis of complex phenotypes are intertwined in this research program.

Additionally, we are interested in development of computational and statistical approaches in proteomics and developmental biology.