Functional annotation signatures of disease susceptibility loci improve SNP association analysis.

ABSTRACT:

Background

Genetic association studies are conducted to discover genetic loci that contribute to an inherited trait, identify the variants behind these associations and ascertain their functional role in determining the phenotype. To date, functional annotations of the genetic variants have rarely played more than an indirect role in assessing evidence for association. Here, we demonstrate how these data can be systematically integrated into an association study's analysis plan.

Results

We developed a Bayesian statistical model for the prior probability of phenotype-genotype association that incorporates data from past association studies and publicly available functional annotation data regarding the susceptibility variants under study. The model takes the form of a binary

SUBMITTER: Iversen ES 

PROVIDER: S-EPMC4041996 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature