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Updated benchmarking of variant effect predictors using deep mutational scanning

The assessment of variant effect predictor (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 scanning (DMS) experiments...

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Detalles Bibliográficos
Autores principales: Livesey, Benjamin J, Marsh, Joseph A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10407742/
https://www.ncbi.nlm.nih.gov/pubmed/37310135
http://dx.doi.org/10.15252/msb.202211474