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

• Main Authors: Corinna Ernst (Author), Eric Hahnen (Author), Christoph Engel (Author), Michael Nothnagel (Author), Jonas Weber (Author), Rita K. Schmutzler (Author), Jan Hauke (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...