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

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

To improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function.Functional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high sensitivity and specificity for damaging variants were used to recalibrate 4...

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Autores principales: Steven N. Hart, Tanya L. Hoskin, Hermela Shimelis, Raymond M. Moore, Bing Feng, Abigail Thomas, Noralane M. Lindor, Eric C. Polley, David E. Goldgar, Edwin S. Iversen, Álvaro N.A. Monteiro, Vera J. Suman, Fergus J. Couch
Formato: Artigo
Lenguaje:inglés
Publicado: 2018
Acceso en línea:https://doi.org/10.1038/s41436-018-0018-4
https://www.nature.com/articles/s41436-018-0018-4.pdf
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https://doi.org/10.1038/s41436-018-0018-4
https://www.nature.com/articles/s41436-018-0018-4.pdf

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