The Hujoel Lab
We develop statistical and computational methods to better understand genetic influences on human diseases and complex traits. Our approaches leverage large-scale biobank datasets such as the UK Biobank (~500,000 participants) and All of Us (~400,000 participants).
Short Tandem Repeats
Expansions and contractions of tandem repeats across generations have produced many repeat polymorphisms in the human genome. Some expanded repeats are somatically unstable and cause inherited disorders previously studied in patient and family cohorts. We developed methods that analyze population-scale whole-genome sequencing (WGS) of biobank cohorts to obtain new insights into germline and somatic instability of tandem repeats and to uncover effects of rare repeat expansions on human health. Additionally, we developed several new computational strategies to extract latent information about repeat instability from WGS data.
Structural Variation
Structural variants can be difficult to detect from high-throughput DNA sequencing now pervasively used in human genetics. We developed novel methods that substantially increase the detection power for structural variants in large cohorts by pooling information across individuals who share extended SNP haplotypes.