A variational Bayes discrete mixture test for rare variant association.

ABSTRACT: Recently, many statistical methods have been proposed to test for associations between rare genetic variants and complex traits. Most of these methods test for association by aggregating genetic variations within a predefined region, such as a gene. Although there is evidence that "aggregate" tests are more powerful than the single marker test, these tests generally ignore neutral variants and therefore are unable to identify specific variants driving the association with phenotype. We propose a novel aggregate rare-variant test that explicitly models a fraction of variants as neutral, tests associations at the gene-level, and infers the rare-variants driving the association. Simulations show that in the practical scenario where there are many variants within a given region of the genome w

SUBMITTER: Logsdon BA 

PROVIDER: S-EPMC4030763 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature