Leveraging allelic imbalance to refine fine-mapping for eQTL studies.

ABSTRACT: Many disease risk loci identified in genome-wide association studies are present in non-coding regions of the genome. Previous studies have found enrichment of expression quantitative trait loci (eQTLs) in disease risk loci, indicating that identifying causal variants for gene expression is important for elucidating the genetic basis of not only gene expression but also complex traits. However, detecting causal variants is challenging due to complex genetic correlation among variants known as linkage disequilibrium (LD) and the presence of multiple causal variants within a locus. Although several fine-mapping approaches have been developed to overcome these challenges, they may produce large sets of putative causal variants when true causal variants are in high LD with many non-causal vari

SUBMITTER: Zou J 

PROVIDER: S-EPMC6952111 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature