Utilizing population controls in rare-variant case-parent association tests.

ABSTRACT: There is great interest in detecting associations between human traits and rare genetic variation. To address the low power implicit in single-locus tests of rare genetic variants, many rare-variant association approaches attempt to accumulate information across a gene, often by taking linear combinations of single-locus contributions to a statistic. Using the right linear combination is key-an optimal test will up-weight true causal variants, down-weight neutral variants, and correctly assign the direction of effect for causal variants. Here, we propose a procedure that exploits data from population controls to estimate the linear combination to be used in an case-parent trio rare-variant association test. Specifically, we estimate the linear combination by comparing population control al

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC4121482 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature