There are several challenges in the transition from single-marker tests on common SNPs in genome-wide association studies to set-based inference on all variants in a functional element, with genotypes called from second-generation sequencing data. Dan Nicolae will present a framework for the analysis of sequence data where we harness population genetics theory to provide prior information on effect sizes that allows a general and powerful test for association. He will also discuss some of the challenges in this transition, including: (i) the construction of sets; (ii) the implicit and explicit assumptions on underlying genetic models of risk for a given set; (iii) interactions with environment and ancestry; and (iv) the interpretation of results.
Audience
This program is open to all.