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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
Human Mutation, Volume 32, No. 1, Year 2011
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Description
Developing countries have significantly contributed to the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects. Moreover, the recognized depth of genomic variation in indigenous African populations, reflecting the ancient origins of humanity on the African continent, and the effect of selection pressures on the genome, will be valuable in understanding the range of both pathological and nonpathological variations. The involvement of these populations in accurately documenting the extant genetic heterogeneity is more than essential. Developing nations are regarded as key contributors to the Human Variome Project (HVP;), a major effort to systematically collect mutations that contribute to or cause human disease and create a cyber infrastructure to tie databases together. However, biomedical research has not been the primary focus in these countries even though such activities are likely to produce economic and health benefits for all. Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data collection. We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. © 2010 Wiley-Liss, Inc.
Authors & Co-Authors
Patrinos, George P.
Greece, Patra
School of Health Sciences
Australia, Melbourne
Faculty of Medicine, Dentistry and Health Sciences
Al-Aama, Jumana Yousuf
Saudi Arabia, Jeddah
King Abdulaziz University
Al-Aqeel, Aida Imbrahim
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Mulla, F.
Kuwait, Kuwait City
Kuwait University
Borg, Joseph
Malta, Msida
L-università Ta' Malta
Devereux, Andrew
United Kingdom, London
St Mary's Hospital
Felice, A. E.
Malta, Msida
L-università Ta' Malta
MacRae, Finlay Alistair
Australia, Melbourne
University of Melbourne
Marafie, Makia J.
Kuwait
Al-sabah Hospital
Petersen, Michael Bjørn
Greece, Athens
Institute of Child Health
Qi, Ming
China, Hangzhou
The First Affiliated Hospital, Zhejiang University School of Medicine
Ramesar, Rajkumar S.
South Africa, Cape Town
Faculty of Health Sciences
Zlotogora, Joel
Israel, Jerusalem
Ministry of Health
Cotton, Richard G.H.
Australia, Melbourne
The Florey
Statistics
Citations: 24
Authors: 14
Affiliations: 14
Identifiers
Doi:
10.1002/humu.21397
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Genetics And Genomics
Study Design
Grounded Theory