Article
Rare penetrant mutations confer severe risk of common diseases.
Science (New York, N.Y.) - 2 Jun 2023
Fiziev Petko P, McRae Jeremy, Ulirsch Jacob C, Dron Jacqueline S, Hamp Tobias, Yang Yanshen, Wainschtein Pierrick, Ni Zijian, Schraiber Joshua G, Gao Hong, Cable Dylan, Field Yair, Aguet Francois, Fasnacht Marc, Metwally Ahmed, Rogers Jeffrey, Marques-Bonet Tomas, Rehm Heidi L, O'Donnell-Luria Anne, Khera Amit V, Farh Kyle Kai-How
Abstract excerpt
We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ~10-fold larger effects than common variants in the same genes. Consequently, an individual at the phenotypic extreme and at the greatest risk for severe, early-onset disease is better identified by a...
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