Article
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Cell reports methods - 22 Jan 2024
Zhao Hengqiang, Du Huakang, Zhao Sen, Chen Zefu, Li Yaqi, Xu Kexin, Liu Bowen, Cheng Xi, Wen Wen, Li Guozhuang, Chen Guilin, Zhao Zhengye, Qiu Guixing, Liu Pengfei, Zhang Terry Jianguo, Wu Zhihong, Wu Nan
Abstract excerpt
Leveraging protein structural information to evaluate pathogenicity has been hindered by the scarcity of experimentally determined 3D protein. With the aid of AlphaFold2 predictions, we developed the structure-informed genetic missense mutation assessor (SIGMA) to predict missense variant pathogenicity. In comparison with existing predictors across labeled variant datasets and experimental datasets, SIGMA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.