Article

Critical assessment of missense variant effect predictors on disease-relevant variant data

2024-06-08

Abstract excerpt

Regular, systematic, and independent assessment of computational tools used to predict the pathogenicity of missense variants is necessary to evaluate their clinical and research utility and suggest directions for future improvement. Here, as part of the sixth edition of the Critical Assessment of Genome Interpretation (CAGI) challenge, we assess missense variant effect predictors (or variant impact predictors) on...

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Literature Corpus work: 02de9331-6a31-5ceb-b130-1412788eda24
DOI: 10.1101/2024.06.06.597828

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