Article
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
American journal of human genetics - 2 Jun 2022
Smail Craig, Ferraro Nicole M, Hui Qin, Durrant Matthew G, Aguirre Matthew, Tanigawa Yosuke, Keever-Keigher Marissa R, Rao Abhiram S, Justesen Johanne M, Li Xin, Gloudemans Michael J, Assimes Themistocles L, Kooperberg Charles, Reiner Alexander P, Huang Jie, O'Donnell Christopher J, Sun Yan V, Rivas Manuel A, Montgomery Stephen B
Abstract excerpt
Polygenic risk scores (PRSs) quantify the contribution of multiple genetic loci to an individual's likelihood of a complex trait or disease. However, existing PRSs estimate this likelihood with common genetic variants, excluding the impact of rare variants. Here, we report on a method to identify rare variants associated with outlier gene expression and integrate their impact into PRS predictions for body mass...
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