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Article

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

27 Mar 2018

Abstract excerpt

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 become a frequently used approach. Aim of this study was to assess the reliability of in silico prediction as a basis...

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PMID: 29580235
DOI: 10.1186/s12920-018-0353-y

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