Article

Biological function polarity prediction of missense variants using machine learning

2020-04-03

Abstract excerpt

Functional interpretation is crucial when facing on average 20,000 missense variants per human exome, as the great majority are not associated with any underlying disease. In silico bioinformatics tools can predict the deleteriousness of variants or assess their functional impact by assigning scores, but they cannot predict whether the variant in question results in gain or loss of function at the protein level....

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Literature Corpus work: 6b42c3f5-fec6-59b7-a66b-881f0b5b3cbc
DOI: 10.1101/2020.04.03.023440

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