Article
Prioritization and functional analysis of GWAS risk loci for Barrett's esophagus and esophageal adenocarcinoma.
Human molecular genetics - 3 Feb 2022
Chen Jianhong, Ali Mourad Wagdy, Yan Li, Dighe Shruti G, Dai James Y, Vaughan Thomas L, Casey Graham, Buas Matthew F
Abstract excerpt
Genome-wide association studies (GWAS) have identified ~20 genetic susceptibility loci for esophageal adenocarcinoma (EAC), and its precursor, Barrett's esophagus (BE). Despite such advances, functional/causal variants and gene targets at these loci remain undefined, hindering clinical translation. A key challenge is that most causal variants map to non-coding regulatory regions such as enhancers, and typically,...
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