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The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

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Author

  • Heather J Howard
  • Ourania Horaitis
  • Richard G H Cotton
  • Mauno Vihinen
  • Raymond Dalgleish
  • Peter Robinson
  • Anthony J Brookes
  • Myles Axton
  • Robert Hoffmann
  • Sylvie Tuffery-Giraud

Summary, in English

The May 2009 Human Variome Project (HVP) Forum "Towards Establishing Standards" was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed.

Publishing year

2010

Language

English

Pages

366-367

Publication/Series

Human Mutation

Volume

31

Issue

3

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Keywords

  • Genomics: standards

Status

Published

ISBN/ISSN/Other

  • ISSN: 1059-7794