Research in our lab is focused on human genetic variation and understanding its role in human disease using high-throughput sequencing technologies. We develop tools for the discovery of DNA sequence variants and identifying disease associated variants. Projects involve development of computational and statistical methods, analysis of data from DNA sequencing technologies and genetic association analysis. 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 detecting variants in repetitive or duplicated regions of the human genome 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)



Information about research projects for UCSD graduate students is available here