Sunday, July 1, 2012

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

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


The Human Variome Project ( 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 aims and goals, since 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 December 12th, 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 Post: human mutation.)