Article
Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database.
Nature communications - 30 Jan 2018
Wang Tao, Bu Chun Hui, Hildebrand Sara, Jia Gaoxiang, Siggs Owen M, Lyon Stephen, Pratt David, Scott Lindsay, Russell Jamie, Ludwig Sara, Murray Anne R, Moresco Eva Marie Y, Beutler Bruce
Abstract excerpt
Computational inference of mutation effects is necessary for genetic studies in which many mutations must be considered as etiologic candidates. Programs such as PolyPhen-2 predict the relative severity of damage caused by missense mutations, but not the actual probability that a mutation will reduce/eliminate protein function. Based on genotype and phenotype data for 116,330 ENU-induced mutations in the...
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