Classifying Variants of Undetermined Significance in BRCA2 with Protein Likelihood Ratios

@inproceedings{Karchin2008ClassifyingVO,
  title={Classifying Variants of Undetermined Significance in BRCA2 with Protein Likelihood Ratios},
  author={Rachel Karchin and Mukesh Agarwal and Andrej Sali and Fergus J. Couch and Mary Stanley Beattie},
  booktitle={Cancer informatics},
  year={2008}
}
BACKGROUND Missense (amino-acid changing) variants found in cancer predisposition genes often create difficulties when clinically interpreting genetic testing results. Although bioinformatics has developed approaches to predicting the impact of these variants, many of these approaches have not been readily applicable in the clinical setting. Bioinformatics approaches for predicting the impact of these variants have not yet found their footing in clinical practice because 1) interpreting the… CONTINUE READING
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Functional impact of missense mutants in BRCA1 predicted by supervised learning

  • R Karchin
  • PLoS. Comp. Biol.,
  • 2007
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