Systematic Analysis of Noncoding Genetic Variants

The vast majority of genetic variants in the human genome are located in the noncoding region. Functional interpretation of causal noncoding variants has remained a major challenge in human genetics. In this talk, I will present a couple of computational algorithms for predicting causal noncoding variants by integrating large scale omics datasets. I will also present a couple of case studies on identifying and validating germline variants in type 1 diabetes and somatic variants in pediatric cancers. Our work established a much-needed systemic approach to identifying and characterizing noncoding causal variants in human diseases.