Human variome project country nodes: Documenting genetic information within a country

George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin CarpenterGarry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G.H. Cotton, David Rimoin

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1513-1519
Number of pages7
JournalHuman Mutation
Volume33
Issue number11
DOIs
Publication statusPublished - 1 Nov 2012

Keywords

  • Country nodes
  • Genomic variation
  • Genomics
  • Human variome project
  • National/ethnic mutation databases
  • Populations

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    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., ... Rimoin, D. (2012). Human variome project country nodes: Documenting genetic information within a country. Human Mutation, 33(11), 1513-1519. https://doi.org/10.1002/humu.22147