Article
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.
Nature genetics - 1 Aug 2023
Weeks Elle M, Ulirsch Jacob C, Cheng Nathan Y, Trippe Brian L, Fine Rebecca S, Miao Jenkai, Patwardhan Tejal A, Kanai Masahiro, Nasser Joseph, Fulco Charles P, Tashman Katherine C, Aguet Francois, Li Taibo, Ordovas-Montanes Jose, Smillie Christopher S, Biton Moshe, Shalek Alex K, Ananthakrishnan Ashwin N, Xavier Ramnik J, Regev Aviv, Gupta Rajat M, Lage Kasper, Ardlie Kristin G, Hirschhorn Joel N, Lander Eric S, Engreitz Jesse M, Finucane Hilary K
Abstract excerpt
Genome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci. Using a large evaluation set...
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