Ontology highlight
ABSTRACT:
SUBMITTER: Heemskerk MM
PROVIDER: S-EPMC4795225 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20150527 1
The assignment of causative genes to noncoding variants identified in genome-wide association studies (GWASs) is challenging. We show how combination of knowledge from gene and pathway databases and chromatin interaction data leads to reinterpretation of published quantitative trait loci for blood metabolites. We describe a previously unidentified link between the rs2403254 locus, which is associated with the ratio of 3-methyl-2-oxobutanoate and alpha-hydroxyisovalerate levels, and the distal LD ...[more]