Article

Mind the gap: preventing circularity in missense variant prediction

2020-05-07

Abstract excerpt

Despite advances in the field of missense variant effect prediction, the real clinical utility of current computational approaches remains rather limited. There is a large difference in performance metrics reported by developers and those observed in the real world. Most currently available predictors suffer from one or more types of circularity in their training and evaluation strategies that lead to overestimati...

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Literature Corpus work: 0388afd3-6e2b-5d49-81d3-4a6b6e80b242
DOI: 10.1101/2020.05.06.080424

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