Premium
Human variome project country nodes: Documenting genetic information within a country
Author(s) -
Patrinos George P.,
Smith Timothy D.,
Howard Heather,
AlMulla Fahd,
Chouchane Lotfi,
Hadjisavvas Andreas,
Hamed Sherifa A.,
Li XiTao,
Marafie Makia,
Ramesar Rajkumar S.,
Ramos Feliciano J.,
de Ravel Thomy,
ElRuby Mona O.,
Shrestha Tilak Ram,
Sobrido MaríaJesús,
Tadmouri Ghazi,
WitschBaumgartner Martina,
Zilfalil Bin Alwi,
Auerbach Arleen D.,
Carpenter Kevin,
Cutting Garry R.,
Dung Vu Chi,
Grody Wayne,
Hasler Julia,
Jorde Lynn,
Kaput Jim,
Macek Milan,
Matsubara Yoichi,
Padilla Carmancita,
Robinson Helen,
RojasMartinez Augusto,
Taylor Graham R.,
Vihinen Mauno,
Weber Tom,
Burn John,
Qi Ming,
Cotton Richard G. H.,
Rimoin David
Publication year - 2012
Publication title -
human mutation
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22147
Subject(s) - biology , genetics , computational biology
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.