X-CAP improves pathogenicity prediction of stopgain variants

Stopgain substitutions are the third-largest class of monogenic human disease mutations and often examined first in patient exomes. Existing computational stopgain pathogenicity predictors, however, exhibit poor performance at the high sensitivity required for clinical use. Here, we introduce a new...

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Detalles Bibliográficos
Autores principales: Rastogi, Ruchir, Stenson, Peter D., Cooper, David N., Bejerano, Gill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338606/
https://www.ncbi.nlm.nih.gov/pubmed/35906703
http://dx.doi.org/10.1186/s13073-022-01078-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338606/
https://www.ncbi.nlm.nih.gov/pubmed/35906703
http://dx.doi.org/10.1186/s13073-022-01078-y

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