Title: Human variome project country nodes: Documenting genetic information within a country
Authors: Patrinos, George P ×
Smith, Timothy D
Howard, Heather
Al-Mulla, Fahd
Chouchane, Lofti
Hadjisavvas, Andreas
Hamed, Sherifa A
Marafie, Makia
Ramesar, Rajkumar S
Ramos, Feliciano J
de Ravel de l'Argentière, Thomy
El-Ruby, Mona O
Shrestha, Tilak Ram
Sobrido, María-Jesús
Tadmouri, Ghazi
Witsch-Baumgartner, 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
Rojas-Martinez, Augusto
Taylor, Graham R
Vihinen, Mauno
Weber, Tom
Burn, John
Qi, Ming
Cotton, Richard G H
Rimoin, David
International Confederation of Countries Advisory Council #
Issue Date: Nov-2012
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:33 issue:11 pages:1513-1519
Abstract: 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.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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