Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

Genetic variants of uncertain clinical significance (VUSs) are a common outcome of clinical genetic testing. Locus-specific variant databases (LSDBs) have been established for numerous disease-associated genes as a research tool for the interpretation of genetic sequence variants to facilitate varia...

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Bibliographic Details
Main Authors: Vail, Paris J., Morris, Brian, van Kan, Aric, Burdett, Brianna C., Moyes, Kelsey, Theisen, Aaron, Kerr, Iain D., Wenstrup, Richard J., Eggington, Julie M.
Format: Online
Language:English
Published: Springer Berlin Heidelberg 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567983/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567983/

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