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

@inproceedings{Vail2015ComparisonOL,
  title={Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases},
  author={Paris J. Vail and Brian Morris and Aric van Kan and Brianna C. Burdett and Kelsey Moyes and Aaron Theisen and Iain D. Kerr and Richard J. Wenstrup and Julie M. Eggington},
  booktitle={Journal of Community Genetics},
  year={2015}
}
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 variant interpretation via aggregated data. If LSDBs are to be used for clinical practice, consistent and transparent criteria regarding the deposition and interpretation of variants are vital, as variant… CONTINUE READING
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