On Some Statistical Issues in Analyzing Whole-Genome Sequencing Data

• Activity Number: 571
• Type: Invited
• Date/Time: Wednesday, August 7, 2013 : 2:00 PM to 3:50 PM
• Sponsor: Section on Statistics in Epidemiology
• Author(s): Dan Liviu Nicolae*+
• Companies: The University of Chicago
• Keywords: sequencing ; whole genome ; genetic association

Abstract

There are many challenges in the transition from genome-wide association studies to whole exome and to whole genome sequencing investigations. We have moved from single-marker tests on common SNPs to set-based inference on all variants in a functional element, and this has led to the development of many statistical tools. I will describe some of the issues we have encountered in analyzing whole-genome data, including: (i) the annotation of variants to sets; (ii) the implicit and explicit assumptions on underlying genetic models of risk for a given set; (iii) the interpretation of results; and (iv) interactions with environment and ancestry.