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

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

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...

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ژورنال

عنوان ژورنال: Human Mutation

سال: 2017

ISSN: 1059-7794,1098-1004

DOI: 10.1002/humu.23258