Article

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

2017-01-27

Abstract excerpt

Missense variants of uncertain significance (VUS) in the BRCA1 and BRCA2 cancer predisposition genes confound clinical interpretation. To improve methods for classification of VUS, functional data for 248 BRCA1 and 207 BRCA2 variants were comprehensively compared to 40 in-silico prediction algorithms, using default and optimized thresholds. Integrated frameworks predicting the pathogenicity of BRCA1 and BRCA2 miss...

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Literature Corpus work: d325e1b1-f814-525b-bf72-b838dab6ed8e
DOI: 10.1101/103762

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