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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Human variome project country nodes: Documenting genetic information within a country
Human Mutation, Volume 33, No. 11, Year 2012
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Description
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. © 2012 Wiley Periodicals, Inc.
Authors & Co-Authors
Patrinos, George P.
Greece, Patra
School of Health Sciences
Smith, Timothy D.
Australia, Melbourne
Human Variome Project International Coordinating Office
Howard, Heather
Australia, Melbourne
Human Variome Project International Coordinating Office
Al-Mulla, F.
Kuwait, Kuwait City
Kuwait University
Chouchane, Lotfi
Qatar, Doha
Weill Cornell Medicine-qatar
Hadjisavvas, Andreas
Cyprus, Nicosia
Cyprus Institute of Neurology and Genetics
Hamed, Sherifa Ahmed
Egypt, Asyut
Assiut University
Li, Xi Tao
China, Beijing
Beijing Hua yi Natural Medicines Institute
Marafie, Makia J.
Kuwait
Al-sabah Hospital
Ramesar, Rajkumar S.
South Africa, Cape Town
University of Cape Town
Ramos, Feliciano J.
Spain, Zaragoza
Universidad de Zaragoza
de Ravel, Thomy J.L.
Belgium, Leuven
Ku Leuven
El-Ruby, Mona Omar
Egypt, Giza
National Research Centre
Shrestha, Tilak Ram
Nepal, Kathmandu
Tribhuvan University
Sobrido, Maria Jesus
Spain, Madrid
Instituto de Salud Carlos Iii
Tadmouri, Ghazi Omar
United Arab Emirates, Dubai
Centre for Arab Genomic Studies
Witsch-Baumgartner, Martina
Austria, Innsbruck
Medizinische Universitat Innsbruck
Zilfalil, Bin Alwi
Malaysia, Kubang Kerian
School of Medical Sciences, Universiti Sains Malaysia
Auerbach, Arleen D.
United States, New York
Rockefeller University
Carpenter, Kevin
Australia, Sydney
The University of Sydney
Cutting, Garry R.
United States, Baltimore
Johns Hopkins University
Dung, Vu Chi
Viet Nam, Hanoi
Vietnam National Children's Hospital
Grody, Wayne
United States, Los Angeles
University of Los Angeles
Hasler, Julia Anne
Zimbabwe, Harare
University of Zimbabwe
Jorde, Lynn B.
United States, Salt Lake City
The University of Utah
Kaput, Jim
Switzerland, Vevey
Nestlé S.a.
Máček, Milan Ml
Czech Republic, Prague
Charles University
Matsubara, Yoichi
Japan, Sendai
Tohoku University School of Medicine
Padilla, Carmancita
Philippines, Manila
University of the Philippines Manila
Robinson, Helen
Australia, Melbourne
Human Variome Project International Coordinating Office
Australia, Melbourne
Faculty of Medicine, Dentistry and Health Sciences
Rojas-Martinez, Augusto
Mexico, San Nicolas de Los Garza
Universidad Autónoma de Nuevo León
Taylor, Graham Roy
United Kingdom, Leeds
Cancer Research
Vihinen, Mauno
Sweden, Lund
Institutionen För Experimentell Medicinsk Vetenskap
Weber, Tom
United States, New York
Suny Downstate Health Sciences University
Burn, John
United Kingdom, Newcastle
Newcastle University
Qi, Ming
China, Hangzhou
The First Affiliated Hospital, Zhejiang University School of Medicine
United States, Rochester
University of Rochester Medical Center
Cotton, Richard G.H.
Australia, Melbourne
Human Variome Project International Coordinating Office
Australia, Melbourne
Faculty of Medicine, Dentistry and Health Sciences
Rimoin, David L.
United States, Ca
Cedars-sinai Medical Centre
Statistics
Citations: 38
Authors: 38
Affiliations: 37
Identifiers
Doi:
10.1002/humu.22147
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Grounded Theory