Article
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations.
Molecular systems biology - 1 Jul 2020
Livesey Benjamin J, Marsh Joseph A
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 data sets, making a direct comparison between VEPs difficult. In this study, we use 31 previously published deep mutational scanning (DMS) experiments, which...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.