Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

BACKGROUND: The use of next-generation sequencing approaches in clinical diagnostics has led to a tremendous increase in data and a vast number of variants of uncertain significance that require interpretation. Therefore, prediction of the effects of missense mutations using in silico tools has beco...

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Detalles Bibliográficos
Autores principales: Ernst, Corinna, Hahnen, Eric, Engel, Christoph, Nothnagel, Michael, Weber, Jonas, Schmutzler, Rita K., Hauke, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870501/
https://www.ncbi.nlm.nih.gov/pubmed/29580235
http://dx.doi.org/10.1186/s12920-018-0353-y

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