Finding and understanding disease-causing genetic mutations

Disease is caused by genetic factors and environmental factors. Genome-wide association study (GWAS) is a powerful method to find genetic factors associated with disease and human complex traits. One conceptual finding GWAS revealed is that many common diseases are caused by a combination of multiple genetic factors (polygenic), rather than a single causal mutation (monogenic). I have been working on finding genetic factors causing polygenic diseases by developing software that accurately finds sequence insertions and deletions from human population-scale sequencing datasets. In this talk, first, I will introduce some examples of disease-causing variants we recently discovered. Next I will also introduce my current research theme aiming to untangle how multiple genetic factors coordinately change cellular homeostasis, which I would like to have a collaboration with mathematical scientists.