Nature Genetics 39, 433 - 436 (2007)
Published online: 28 March 2007 | doi:10.1038/ng2024

Recommendations of the 2006 Human Variome Project meeting

Richard G.H. Cotton43 and participants of the 2006 Human Variome Project meeting

  1. Victorian Partnership for Advanced Computing, Melbourne, Victoria, Australia.
  2. The Rockefeller University, New York, New York, USA.
  3. National Institute on Aging, Bethesda, Maryland, USA.
  4. Weatherall Institute of Molecular Medicine, Oxford, UK.
  5. National Center for Health Marketing, US Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  6. World Health Organization, Geneva, Switzerland.
  7. Institute of Genomics and Integrative Biology, Delhi, India.
  8. National Human Genome Research Institute, Bethesda, Maryland, USA.
  9. University of Leicester, Leicester, UK.
  10. Medical Research Council, Human Genetics Unit, Edinburgh, Scotland, UK.
  11. University of Washington, Seattle, Washington, USA.
  12. Universidad de Guadalajara, Guadalajara, Mexico.
  13. Center for Human Genetics, University of Leuven, Leuven, Belgium.
  14. CHU de Montpellier, Montpellier, France.
  15. Benaroya Research Institute at Virginia Mason, Seattle, Washington, USA.
  16. Genomic Disorders Research Centre, Melbourne, Victoria, Australia.
  17. Leiden University Medical Center, Leiden, The Netherlands.
  18. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
  19. Baylor College of Medicine, Baylor, Texas, USA.
  20. University of British Columbia, Vancouver, British Columbia, Canada.
  21. Natural Sciences Sector, United Nations Educational, Scientific and Cultural Organization (UNESCO), Paris, France.
  22. March of Dimes Birth Defects Foundation, Mamaroneck, New York, USA.
  23. University of California San Francisco, San Francisco, California, USA.
  24. Faculté de Pharmacie, Monastir, Tunisia.
  25. Karolinska Institutet, Stockholm, Sweden.
  26. National Center for Biotechnology Information (NCBI), US National Institutes of Health (NIH), Bethesda, Maryland, USA.
  27. Anthony Nolan Research Institute, UK.
  28. African Institute of Biomedical Science and Technology, Harare, Zimbabwe.
  29. Hamamatsu University School of Medicine, Hamamatsu, Japan.
  30. Centro de Estudio de las Metabolopatías Congénitas (CEMECO), National University of Córdoba and Santísima Trinidad Children's Hospital, Córdoba, Argentina.
  31. University of Washington, Seattle, Washington, USA.
  32. University of Cape Town, Cape Town, South Africa.
  33. Royal Perth Hospital, Perth, Western Australia, Australia.
  34. Oregon Health & Science University, Portland, Oregon, USA.
  35. Cedars-Sinai Medical Center, Los Angeles, California, USA.
  36. NIH Pharmacogenetics Research Network, Bethesda, Maryland, USA.
  37. Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.
  38. Keio University School of Medicine, Tokyo, Japan.
  39. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
  40. Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
  41. St. James' University Hospital, Leeds, UK.
  42. American College of Medical Genetics, Bethesda, Maryland, USA.
  43. Richard G.H. Cotton is at the Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. The complete list of the authors appears at the end of the paper*. e-mail:

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.