Article
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells.
Nature genetics - 1 May 2022
Mouri Kousuke, Guo Michael H, de Boer Carl G, Lissner Michelle M, Harten Ingrid A, Newby Gregory A, DeBerg Hannah A, Platt Winona F, Gentili Matteo, Liu David R, Campbell Daniel J, Hacohen Nir, Tewhey Ryan, Ray John P
Abstract excerpt
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within each locus are mostly unknown. Here, we perform high-throughput allele-specific reporter assays to prioritize disease-associated variants for five autoimmune diseases. By examining variants that both promote allele-specific reporter expression and are located in...
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