This article is dedicated to the memory of Professor David Rimoin, the first Chair of the Human Variome Project International Scientific Advisory Committee, whose support and overall contribution for the Human Variome Project was tireless and instrumental for its success.
Article first published online: 18 JUL 2012
© 2012 Wiley Periodicals, Inc.
Volume 33, Issue 11, pages 1513–1519, November 2012
How to Cite
Patrinos, G. P., Smith, T. D., Howard, H., Al-Mulla, F., Chouchane, L., Hadjisavvas, A., Hamed, S. A., Li, X.-T., Marafie, M., Ramesar, R. S., Ramos, F. J., de Ravel, T., El-Ruby, M. O., Shrestha, T. R., Sobrido, M.-J., Tadmouri, G., Witsch-Baumgartner, M., Zilfalil, B. A., Auerbach, A. D., Carpenter, K., Cutting, G. R., Dung, V. C., Grody, W., Hasler, J., Jorde, L., Kaput, J., Macek, M., Matsubara, Y., Padilla, C., Robinson, H., Rojas-Martinez, A., Taylor, G. R., Vihinen, M., Weber, T., Burn, J., Qi, M., Cotton, R. G. H., Rimoin, D. and (International Confederation of Countries Advisory Council) (2012), Human variome project country nodes: Documenting genetic information within a country. Hum. Mutat., 33: 1513–1519. doi: 10.1002/humu.22147
Communicated by Mark H. Paalman
- Issue published online: 11 OCT 2012
- Article first published online: 18 JUL 2012
- Accepted manuscript online: 29 JUN 2012 11:37AM EST
- Manuscript Accepted: 4 JUN 2012
- Manuscript Received: 14 MAR 2012
- Establishment of HVP Country Nodes has been supported by CZ.2.16/3.1.00/24022 and 00064203 grants to M.M.); the Golden Helix Institute of Biomedical Research budget (to G.P.P); the REGENPSI network (to M.-J.S.); Consellerıa de Educacion; Xunta de Galicia (2009/019); Fondo de investigación Sanitaria; Institute of Health Carlos III, Spain (Miguel Servet program); FEDER funds; USM Short Term research grant (304/PPSP/61311034); MOSTI ER Biotek research grant (304/PPSP/6150113/K105) and the contributions from members of 1mhgvc
- human variome project;
- country nodes;
- national/ethnic mutation databases;
- genomic variation;
The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:1513–1519, 2012. © 2012 Wiley Periodicals, Inc.