Genetic variant selection: learning across traits and sites

Abstract

We consider resequencing studies of associated loci and the problem of prioritizing sequence variants for functional follow-up. Working within the multivariate linear regression framework helps us to account for correlation across variants, and adopting a Bayesian approach naturally leads to posterior probabilities that incorporate all information about the variants' function. We describe two novel prior distributions that facilitate learning the role of each variant by borrowing evidence across phenotypes and across mutations in the same gene. We illustrate their potential advantages with simulations and re-analyzing a dataset of sequencing variants.