Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

PURPOSE: To improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function. METHODS: Functional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high sensitivity and specificity for damaging variants were us...

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Detalles Bibliográficos
Autores principales: Hart, Steven N., Hoskin, Tanya, Shimelis, Hermela, Moore, Raymond M., Feng, Bingjian, Thomas, Abigail, Lindor, Noralane M., Polley, Eric C., Goldgar, David E., Iversen, Edwin, Monteiro, Alvaro N.A., Suman, Vera J., Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287763/
https://www.ncbi.nlm.nih.gov/pubmed/29884841
http://dx.doi.org/10.1038/s41436-018-0018-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287763/
https://www.ncbi.nlm.nih.gov/pubmed/29884841
http://dx.doi.org/10.1038/s41436-018-0018-4

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