Robust Statistics for Rare Genetic Variant Association Studies

• Activity Number: 440
• Type: Topic Contributed
• Date/Time: Wednesday, August 6, 2014 : 8:30 AM to 10:20 AM
• Sponsor: ENAR
• Author(s): Paul Auer*+
• Companies: University of Wisconsin-Milwaukee
• Keywords: next-generation sequencing ; rare variants ; human genetics

Abstract

Next generation sequencing technologies are being used in a variety of ways to generate data for genetic association studies. In particular, by deep sequencing of a large number of samples, rare genetic polymorphisms can be effectively identified, genotyped, and analyzed for associations with a phenotype of interest. Although a great deal of effort has been exerted in investigating best-practices for quality control (QC) of rare genetic variants, there has not been a commensurate focus on phenotype QC. For a variety of reasons, rare-variant association tests tend to be less robust to poorly behaved phenotypes than tests used for the analysis of common-variants. Several different approaches for constructing robust association analyses will be compared through simulations and applications on rare variant data.