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Keywords:

  • mutation;
  • database;
  • HVP;
  • SNP;
  • genetic disease

Abstract

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. Hum Mutat 31:1–2, 2010. © 2010 Wiley-Liss, Inc.