Research in the lab is centered on human genetic variation and involves analysis of data from high-throughput sequencing technologies. We develop computational and statistical methods for challenging problems in human genetics/genomics and apply these methods to understand human disease. Current projects in the lab focus on several related topics:

1. development of computational methods for the detection of DNA sequence variation using high-throughput sequencing technologies (focus on challenging variant types such as short indels and haplotypes). This frequently involves technology development on the lab side as well.



2. analysis of rare variants identified from large-scale sequencing studies to identify new variants and genes associated with disease (current focus on type 2 diabetes).



3. using genetic variation in human genomes for inference (recent work on estimating ancestry and PCR duplication rate)