Article
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features.
Nature communications - 6 Mar 2020
Ray John P, de Boer Carl G, Fulco Charles P, Lareau Caleb A, Kanai Masahiro, Ulirsch Jacob C, Tewhey Ryan, Ludwig Leif S, Reilly Steven K, Bergman Drew T, Engreitz Jesse M, Issner Robbyn, Finucane Hilary K, Lander Eric S, Regev Aviv, Hacohen Nir
Abstract excerpt
Genome-wide association studies have associated thousands of genetic variants with complex traits and diseases, but pinpointing the causal variant(s) among those in tight linkage disequilibrium with each associated variant remains a major challenge. Here, we use seven experimental assays to characterize all common variants at the multiple disease-associated TNFAIP3 locus in five disease-relevant immune cell...
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