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

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 betw...

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書目詳細資料
發表在:Mol Syst Biol
Main Authors: Livesey, Benjamin J, Marsh, Joseph A
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2020
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336272/
https://ncbi.nlm.nih.gov/pubmed/32627955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/msb.20199380
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