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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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Detalles Bibliográficos
Autores principales: Livesey, Benjamin J, Marsh, Joseph A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336272/
https://www.ncbi.nlm.nih.gov/pubmed/32627955
http://dx.doi.org/10.15252/msb.20199380

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