Article

Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease

2023-11-23

Abstract excerpt

An important issue pertinent to the analysis of sequence data to detect association between rare variants in a gene and a given phenotype is the ability to annotate nonsynonymous variants in terms of their likely importance as affecting protein function. While a number of software tools attempt to do this, AlphaMissense was recently released and was shown to have good performance using benchmarks based on variants...

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Literature Corpus work: 9f077e2d-dd4e-5696-9153-8c4e3c8106a8
DOI: 10.1101/2023.11.22.23298908

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