Article
Performance evaluation of pathogenicity-computation methods for missense variants.
Nucleic acids research - 6 Sept 2018
Li Jinchen, Zhao Tingting, Zhang Yi, Zhang Kun, Shi Leisheng, Chen Yun, Wang Xingxing, Sun Zhongsheng
Abstract excerpt
With expanding applications of next-generation sequencing in medical genetics, increasing computational methods are being developed to predict the pathogenicity of missense variants. Selecting optimal methods can accelerate the identification of candidate genes. However, the performances of different computational methods under various conditions have not been completely evaluated. Here, we compared 12...
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