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

• Autors principals: Corinna Ernst (Autor), Eric Hahnen (Autor), Christoph Engel (Autor), Michael Nothnagel (Autor), Jonas Weber (Autor), Rita K. Schmutzler (Autor), Jan Hauke (Autor)
• Format: Llibre
• Publicat: BMC, 2018-03-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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...