Article

Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of <i>TARDBP</i> and <i>FUS</i> gene variants in ALS

2022-07-07

Abstract excerpt

<h4>Background</h4> In the sporadic form of amyotrophic lateral sclerosis (ALS), the pathogenicity of rare variants in the causative genes characterizing the familial form remains largely unknown. To predict the pathogenicity of such variants, in silico analysis is commonly used. In some cases of ALS, the gene mutations are concentrated in specific regions, and the resulting alterations in protein structure are...

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Literature Corpus work: df9f0def-fdb4-5e93-a8f2-494fe6fd8e87
DOI: 10.1101/2022.07.07.499092

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