title: Human Variome Project country nodes: documenting genetic information within a country.
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.
authors: Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece. gpatrinos@upatras.gr
authors: George P
authors: GP
authors: Patrinos
authors: Timothy D
authors: TD
authors: Smith
authors: Heather
authors: H
authors: Howard
authors: Fahd
authors: F
authors: Al-Mulla
authors: Lotfi
authors: L
authors: Chouchane
authors: Andreas
authors: A
authors: Hadjisavvas
authors: Sherifa A
authors: SA
authors: Hamed
authors: Xi-Tao
authors: XT
authors: Li
authors: Makia
authors: M
authors: Marafie
authors: Rajkumar S
authors: RS
authors: Ramesar
authors: Feliciano J
authors: FJ
authors: Ramos
authors: Thomy
authors: T
authors: de Ravel
authors: Mona O
authors: MO
authors: El-Ruby
authors: Tilak Ram
authors: TR
authors: Shrestha
authors: María-Jesús
authors: MJ
authors: Sobrido
authors: Ghazi
authors: G
authors: Tadmouri
authors: Martina
authors: M
authors: Witsch-Baumgartner
authors: Bin Alwi
authors: BA
authors: Zilfalil
authors: Arleen D
authors: AD
authors: Auerbach
authors: Kevin
authors: K
authors: Carpenter
authors: Garry R
authors: GR
authors: Cutting
authors: Vu Chi
authors: VC
authors: Dung
authors: Wayne
authors: W
authors: Grody
authors: Julia
authors: J
authors: Hasler
authors: Lynn
authors: L
authors: Jorde
authors: Jim
authors: J
authors: Kaput
authors: Milan
authors: M
authors: Macek
authors: Yoichi
authors: Y
authors: Matsubara
authors: Carmancita
authors: C
authors: Padilla
authors: Helen
authors: H
authors: Robinson
authors: Augusto
authors: A
authors: Rojas-Martinez
authors: Graham R
authors: GR
authors: Taylor
authors: Mauno
authors: M
authors: Vihinen
authors: Tom
authors: T
authors: Weber
authors: John
authors: J
authors: Burn
authors: Ming
authors: M
authors: Qi
authors: Richard G H
authors: RG
authors: Cotton
authors: David
authors: D
authors: Rimoin
mesh_terms: D014644:Genetic Variation; D015894:Genome, Human; D017408:Guidelines as Topic; D016045:Human Genome Project / Q000191:economics / Q000941:ethics / Q000331:legislation & jurisprudence; D006801:Humans; D007391:International Cooperation; D012042:Registries; D012984:Software