Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Recommendations of the 2006 Human Variome Project meeting

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.

This is a preview of subscription content

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. Cotton, R.G. Hum. Mutat. 15, 4–6 (2000).

    CAS  Article  Google Scholar 

  2. Porter, C.J., Talbot, C.C. Jr. & Cuticchia, A.J. Hum. Mut. 15, 1236–1244 (2000).

    Article  Google Scholar 

  3. Hamosh, A., Scott, A.F., Amberger, J.S., Bocchini, C.A. & McKusick, V.A. Nucleic Acids Res. 33, D514–D517 (2005).

    CAS  Article  Google Scholar 

  4. Stenson, P.D. et al. Hum. Mutat. 21, 577–581 (2003).

    CAS  Article  Google Scholar 

  5. Scriver, C.R. et al. Hum. Mutat. 21, 333–344 (2003).

    CAS  Article  Google Scholar 

  6. Baird, P.A., Anderson, T.W., Newcombe, H.B. & Lowry, R.B. Am. J. Hum. Genet. 42, 677–693 (1988).

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Ring, H.Z., Kwok, P.Y. & Cotton, R.G. Pharmacogenomics 7, 969–972 (2006).

    Article  Google Scholar 

Download references


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

Authors and Affiliations



Corresponding author

Correspondence to Richard G.H. Cotton.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Cotton, R., participants of the 2006 Human Variome Project meeting. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 39, 433–436 (2007).

Download citation

  • Published:

  • Issue Date:

  • DOI:

Further reading


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing