Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

George P. Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Andrew Devereux, Alex E. Felice, Finlay Macrae, Makia J. Marafie, Michael B. Petersen, Ming Qi, Rajkumar S. Ramesar, Joel Zlotogora, Richard G.H. Cotton

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)2-9
Number of pages8
JournalHuman Mutation
Issue number1
Publication statusPublished - 1 Jan 2011


  • Developing countries
  • Genetic variation
  • National/ethnic mutation databases
  • Populations


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