Article

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

2019-11-26

Abstract excerpt

To deal with the huge number of novel protein-coding variants identified by genome and exome sequencing studies, many computational variant effect predictors (VEPs) have been developed. Such predictors are often trained and evaluated using different variant datasets, making a direct comparison between VEPs difficult. In this study, we use 31 previously published deep mutational scanning (DMS) experiments, which pr...

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Literature Corpus work: 9565d75e-d786-5400-b59b-19e384df22f7
DOI: 10.1101/855957

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