The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Article first published online: 5 JAN 2010
© 2010 Wiley-Liss, Inc.
Volume 31, Issue 3, pages 366–367, March 2010
How to Cite
Howard, H. J., Horaitis, O., Cotton, R. G.H., Vihinen, M., Dalgleish, R., Robinson, P., Brookes, A. J., Axton, M., Hoffmann, R. and Tuffery-Giraud, S. (2010), The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”. Hum. Mutat., 31: 366–367. doi: 10.1002/humu.21175
- Issue published online: 16 FEB 2010
- Article first published online: 5 JAN 2010
- Accepted manuscript online: 5 JAN 2010 12:00AM EST
- Manuscript Accepted: 16 NOV 2009
- Manuscript Received: 13 OCT 2009
- genetic disease
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.