Published March 28, 2007
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Recommendations of the 2006 Human Variome Project meeting.

Creators

  • 1. St. Vincent's Health System
  • 2. Victorian Parnership for Advanced Computing (VPAC)
  • 3. Rockefeller University
  • 4. National Institutes of Health
  • 5. University of Oxford
  • 6. World Health Organization
  • 7. Institute of Genomics and Integrative Biology
  • 8. University of Leicester
  • 9. Medical Research Council
  • 10. University of Washington
  • 11. University of Guadalajara
  • 12. Katholieke Universiteit Leuven
  • 13. CHU Montpellier
  • 14. Virginia Mason Medical Center
  • 15. European Molecular Biology Laboratory
  • 16. European Bioinformatics Institute
  • 17. Baylor College of Medicine
  • 18. University of British Columbia
  • 19. UNESCO
  • 20. March of Dimes
  • 21. University of California, San Francisco
  • 22. University of Monastir
  • 23. Karolinska Institutet
  • 24. Anthony Nolan
  • 25. African Institute of Biomedical Science and Technology
  • 26. Hamamatsu University School of Medicine
  • 27. University of Cape Town
  • 28. Royal Perth Hospital
  • 29. Oregon Health & Science University
  • 30. Cedars-Sinai Medical Center
  • 31. Université de Montréal
  • 32. Keio University
  • 33. Cold Spring Harbor Laboratory
  • 34. Centre for Arab Genomic Studies
  • 35. St James's University Hospital
  • 36. American College of Medical Genetics

Description

Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization–cosponsored meeting on June 20–23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations.
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