Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression.

ABSTRACT: Expression quantitative trait locus (eQTL) detection has emerged as an important tool for unraveling of the relationship between genetic risk factors and disease or clinical phenotypes. Most studies use single marker linear regression to discover primary signals, followed by sequential conditional modeling to detect secondary genetic variants affecting gene expression. However, this approach assumes that functional variants are sparsely distributed and that close linkage between them has little impact on estimation of their precise location and the magnitude of effects. We describe a series of simulation studies designed to evaluate the impact of linkage disequilibrium (LD) on the fine mapping of causal variants with typical eQTL effect sizes. In the presence of multisite regulation, even

SUBMITTER: Zeng B 

PROVIDER: S-EPMC5555460 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature