Recommendations of the 2006 Human Variome Project meeting

Richard G.H. Cotton, William Appelbe, Arleen D. Auerbach, Kevin Becker, Walter Bodmer, D. Joe Boone, Victor Boulyjenkov, Samir Brahmachari, Lawrence Brody, Anthony Brookes, Alastair F. Brown, Peter Byers, Jose Maria Cantu, Jean Jacques Cassiman, Mireille Claustres, Patrick Concannon, Richard G.H. Cotton, Johan T. Den Dunnen, Paul Flicek, Richard GibbsJudith Hall, Julia Hasler, Michael Katz, Pui Yan Kwok, Sandrine Laradi, Annika Lindblom, Donna Maglott, Steven Marsh, Collen Muto Masimirembwa, Shinsei Minoshima, Ana Maria Oller De Ramirez, Roberta Pagon, Raj Ramesar, David Ravine, Sue Richards, David Rimoin, Huijun Z. Ring, Charles R. Scriver, Stephen Sherry, Nobuyoshi Shimizu, Lincoln Stein, Ghazi Omar Tadmouri, Graham Taylor, Michael Watson

Research output: Contribution to journalReview articlepeer-review

55 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)433-436
Number of pages4
JournalNature genetics
Issue number4
StatePublished - Apr 2007

ASJC Scopus subject areas

  • Genetics


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