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

Patrinos, George P.; Smith, Timothy D.; Howard, Heather; Al-Mulla, Fand; Chouchane, Lotfi; Hadjisavvas, Andreas; Hamed, Sherifa A.; Li, Xi-Tao; Marafie, Makia and Ramesar, Rajkumar S., et al. (2012) In Human Mutation 33(11). p.1513-1519
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... (More)
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. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc. (Less)
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published
subject
keywords
human variome project, country nodes, national, ethnic mutation, databases, populations, genomic variation, genomics
in
Human Mutation
volume
33
issue
11
pages
1513 - 1519
publisher
John Wiley & Sons
external identifiers
  • wos:000309755800004
  • scopus:84867475839
ISSN
1059-7794
DOI
10.1002/humu.22147
language
English
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yes
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178779e1-0972-433b-bcc1-81f08416a77f (old id 3284187)
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2013-01-07 09:43:11
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2017-01-01 03:15:09
@article{178779e1-0972-433b-bcc1-81f08416a77f,
  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. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc.},
  author       = {Patrinos, George P. and Smith, Timothy D. and Howard, Heather and Al-Mulla, Fand and Chouchane, Lotfi and Hadjisavvas, Andreas and Hamed, Sherifa A. and Li, Xi-Tao and Marafie, Makia and Ramesar, Rajkumar S. and Ramos, Feliciano J. and de Rave, Thomy and El-Ruby, Mona O. and Shrestha, Tilak Ram and Sobrido, Maria-Jess and Tadmouri, Ghazi and Witsch-Baumgartner, Martina and Zilfali, Bin Alwi and Auerbach, Arleen D. and Carpenter, Kevin and Cutting, Garry R. and Chi Dung, Vu and Grody, Wayne and Hasler, Julia and Jorde, Lynn and Kaput, Jim and Macek, Milan and Matsubara, Yoichi and Padilla, Carmancita and Robinson, Helen and Rojas-Martinez, Augusto and Taylor, Graham R. and Vihinen, Mauno and Weber, Tom and Burn, John and Qi, Ming and Cotton, Richard G. H. and Rimoin, David},
  issn         = {1059-7794},
  keyword      = {human variome project,country nodes,national,ethnic mutation,databases,populations,genomic variation,genomics},
  language     = {eng},
  number       = {11},
  pages        = {1513--1519},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Human variome project country nodes: Documenting genetic information within a country},
  url          = {http://dx.doi.org/10.1002/humu.22147},
  volume       = {33},
  year         = {2012},
}