Article

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

2019-07-04

Abstract excerpt

Interpretation of the colossal number of genetic variants identified from sequencing applications is one of the major bottlenecks in clinical genetics, with the inference of the effect of amino acid-substituting missense variants on protein structure and function being especially challenging. Here we evaluated the burden of amino acids affected in pathogenic variants (n=32,923) compared to the variants (n=164,915)...

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Literature Corpus work: b81c5359-3c7d-541f-8a38-7f02d39efbd4
DOI: 10.1101/693259

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