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Article

Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.

Human mutation - 1 Sept 2017

Pejaver Vikas, Mooney Sean D, Radivojac Predrag

Abstract excerpt

The steady advances in machine learning and accumulation of biomedical data have contributed to the development of numerous computational models that assess the impact of missense variants. Different methods, however, operationalize impact differently. Two common tasks in this context are the prediction of the pathogenicity of variants and the prediction of their effects on a protein's function. These are related...

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PMID: 28508593
DOI: 10.1002/humu.23258
PMCID: PMC5561458

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