HGVS Recommendations for the Description of Sequence Variants: 2016 Update

@article{Dunnen2016HGVSRF,
  title={HGVS Recommendations for the Description of Sequence Variants: 2016 Update},
  author={J. T. Dunnen and R. Dalgleish and D. Maglott and Reece K. Hart and M. Greenblatt and J. Mcgowan-Jordan and A. Roux and T. Smith and S. Antonarakis and Peter E.M. Taschner},
  journal={Human Mutation},
  year={2016},
  volume={37}
}
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned… Expand
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