Article

Updated benchmarking of variant effect predictors using deep mutational scanning

2022-11-22

Abstract excerpt

Variant effect predictors (VEPs) provide a potential solution to the influx of variants of uncertain clinical significance produced by genome sequencing studies. However, the assessment of VEP performance is fraught with biases introduced by benchmarking against clinical observations. In this study, building on our previous work, we use independently generated measurements of protein function from deep mutational...

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Literature Corpus work: 1c790da5-f730-56c7-8a05-62b83919111a
DOI: 10.1101/2022.11.19.517196

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