Article

Rhapsody: Pathogenicity prediction of human missense variants based on protein sequence, structure and dynamics

2019-08-16

Abstract excerpt

The biological effects of human missense variants have been studied experimentally for decades but predicting their effects in clinical molecular diagnostics remains challenging. Available computational tools are usually based on the analysis of sequence conservation and structural properties of the mutant protein. We recently introduced a new machine learning method that demonstrated for the first time the signif...

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Literature Corpus work: ca66573c-d774-5e0b-8475-fe6bffbeb660
DOI: 10.1101/737429

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