Article
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.
Human mutation - 1 Jun 2016
Deans Zandra C, Fairley Jennifer A, den Dunnen Johan T, Clark Caroline
Abstract excerpt
The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom National External Quality Assessment Scheme (UK NEQAS) for Molecular Genetics, we assessed the...
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