Article
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.
Cell - 30 Sept 2021
Griesemer Dustin, Xue James R, Reilly Steven K, Ulirsch Jacob C, Kukreja Kalki, Davis Joe R, Kanai Masahiro, Yang David K, Butts John C, Guney Mehmet H, Luban Jeremy, Montgomery Stephen B, Finucane Hilary K, Novina Carl D, Tewhey Ryan, Sabeti Pardis C
Abstract excerpt
3' untranslated region (3'UTR) variants are strongly associated with human traits and diseases, yet few have been causally identified. We developed the massively parallel reporter assay for 3'UTRs (MPRAu) to sensitively assay 12,173 3'UTR variants. We applied MPRAu to six human cell lines, focusing on genetic variants associated with genome-wide association studies (GWAS) and human evolutionary adaptation. MPRAu...
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