Article
Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations.
Briefings in bioinformatics - 20 Jul 2023
Wang Boshen, Lei Xue, Tian Wei, Perez-Rathke Alan, Tseng Yan-Yuan, Liang Jie
Abstract excerpt
We report the structure-based pathogenicity relationship identifier (SPRI), a novel computational tool for accurate evaluation of pathological effects of missense single mutations and prediction of higher-order spatially organized units of mutational clusters. SPRI can effectively extract properties determining pathogenicity encoded in protein structures, and can identify deleterious missense mutations of germ...
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