Commentary | Published:

Recommendations of the 2006 Human Variome Project meeting

Nature Genetics volume 39, pages 433436 (2007) | Download Citation


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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Collection of fragments of the total picture was begun by V. McKusick, D. Cooper, A. Brookes, NCBI, EBI and others, and the vision of complete and coordinated collection was kept alive by a dedicated group of core members of the HUGO-Mutation Database Initiative/Human Genome Variation Society and their funders.

Author information


  1. Victorian Partnership for Advanced Computing, Melbourne, Victoria, Australia.

    • William Appelbe
  2. The Rockefeller University, New York, New York, USA.

    • Arleen D Auerbach
  3. National Institute on Aging, Bethesda, Maryland, USA.

    • Kevin Becker
  4. Weatherall Institute of Molecular Medicine, Oxford, UK.

    • Walter Bodmer
  5. National Center for Health Marketing, US Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    • D Joe Boone
  6. World Health Organization, Geneva, Switzerland.

    • Victor Boulyjenkov
  7. Institute of Genomics and Integrative Biology, Delhi, India.

    • Samir Brahmachari
  8. National Human Genome Research Institute, Bethesda, Maryland, USA.

    • Lawrence Brody
  9. University of Leicester, Leicester, UK.

    • Anthony Brookes
  10. Medical Research Council, Human Genetics Unit, Edinburgh, Scotland, UK.

    • Alastair F Brown
  11. University of Washington, Seattle, Washington, USA.

    • Peter Byers
  12. Universidad de Guadalajara, Guadalajara, Mexico.

    • Jose Maria Cantu
  13. Center for Human Genetics, University of Leuven, Leuven, Belgium.

    • Jean-Jacques Cassiman
  14. CHU de Montpellier, Montpellier, France.

    • Mireille Claustres
  15. Benaroya Research Institute at Virginia Mason, Seattle, Washington, USA.

    • Patrick Concannon
  16. Genomic Disorders Research Centre, Melbourne, Victoria, Australia.

    • Richard G H Cotton
  17. Leiden University Medical Center, Leiden, The Netherlands.

    • Johan T den Dunnen
  18. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

    • Paul Flicek
  19. Baylor College of Medicine, Baylor, Texas, USA.

    • Richard Gibbs
  20. University of British Columbia, Vancouver, British Columbia, Canada.

    • Judith Hall
  21. Natural Sciences Sector, United Nations Educational, Scientific and Cultural Organization (UNESCO), Paris, France.

    • Julia Hasler
  22. March of Dimes Birth Defects Foundation, Mamaroneck, New York, USA.

    • Michael Katz
  23. University of California San Francisco, San Francisco, California, USA.

    • Pui-Yan Kwok
  24. Faculté de Pharmacie, Monastir, Tunisia.

    • Sandrine Laradi
  25. Karolinska Institutet, Stockholm, Sweden.

    • Annika Lindblom
  26. National Center for Biotechnology Information (NCBI), US National Institutes of Health (NIH), Bethesda, Maryland, USA.

    • Donna Maglott
    •  & Stephen Sherry
  27. Anthony Nolan Research Institute, UK.

    • Steven Marsh
  28. African Institute of Biomedical Science and Technology, Harare, Zimbabwe.

    • Collen Muto Masimirembwa
  29. Hamamatsu University School of Medicine, Hamamatsu, Japan.

    • Shinsei Minoshima
  30. Centro de Estudio de las Metabolopatías Congénitas (CEMECO), National University of Córdoba and Santísima Trinidad Children's Hospital, Córdoba, Argentina.

    • Ana Maria Oller de Ramirez
  31. University of Washington, Seattle, Washington, USA.

    • Roberta Pagon
  32. University of Cape Town, Cape Town, South Africa.

    • Raj Ramesar
  33. Royal Perth Hospital, Perth, Western Australia, Australia.

    • David Ravine
  34. Oregon Health & Science University, Portland, Oregon, USA.

    • Sue Richards
  35. Cedars-Sinai Medical Center, Los Angeles, California, USA.

    • David Rimoin
  36. NIH Pharmacogenetics Research Network, Bethesda, Maryland, USA.

    • Huijun Z Ring
  37. Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.

    • Charles R Scriver
  38. Keio University School of Medicine, Tokyo, Japan.

    • Nobuyoshi Shimizu
  39. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.

    • Lincoln Stein
  40. Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

    • Ghazi Omar Tadmouri
  41. St. James' University Hospital, Leeds, UK.

    • Graham Taylor
  42. American College of Medical Genetics, Bethesda, Maryland, USA.

    • Michael Watson
  43. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia

    • Richard G.H. Cotton


  1. participants of the 2006 Human Variome Project meeting


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Competing interests

The author declares no competing financial interests.

Corresponding author

Correspondence to Richard G.H. Cotton.

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