title: Recommendations of the 2006 Human Variome Project meeting.
abstract: 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.
authors: Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. cotton@unimelb.edu.au
authors: Richard G H
authors: RG
authors: Cotton
authors: William
authors: W
authors: Appelbe
authors: Arleen D
authors: AD
authors: Auerbach
authors: Kevin
authors: K
authors: Becker
authors: Walter
authors: W
authors: Bodmer
authors: D Joe
authors: DJ
authors: Boone
authors: Victor
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authors: Boulyjenkov
authors: Samir
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authors: Brahmachari
authors: Lawrence
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authors: Brody
authors: Anthony
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authors: Brookes
authors: Alastair F
authors: AF
authors: Brown
authors: Peter
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authors: Byers
authors: Jose Maria
authors: JM
authors: Cantu
authors: Jean-Jacques
authors: JJ
authors: Cassiman
authors: Mireille
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authors: Claustres
authors: Patrick
authors: P
authors: Concannon
authors: Richard G H
authors: RG
authors: Cotton
authors: Johan T
authors: JT
authors: den Dunnen
authors: Paul
authors: P
authors: Flicek
authors: Richard
authors: R
authors: Gibbs
authors: Judith
authors: J
authors: Hall
authors: Julia
authors: J
authors: Hasler
authors: Michael
authors: M
authors: Katz
authors: Pui-Yan
authors: PY
authors: Kwok
authors: Sandrine
authors: S
authors: Laradi
authors: Annika
authors: A
authors: Lindblom
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authors: Maglott
authors: Steven
authors: S
authors: Marsh
authors: Collen Muto
authors: CM
authors: Masimirembwa
authors: Shinsei
authors: S
authors: Minoshima
authors: Ana Maria Oller
authors: AM
authors: de Ramirez
authors: Roberta
authors: R
authors: Pagon
authors: Raj
authors: R
authors: Ramesar
authors: David
authors: D
authors: Ravine
authors: Sue
authors: S
authors: Richards
authors: David
authors: D
authors: Rimoin
authors: Huijun Z
authors: HZ
authors: Ring
authors: Charles R
authors: CR
authors: Scriver
authors: Stephen
authors: S
authors: Sherry
authors: Nobuyoshi
authors: N
authors: Shimizu
authors: Lincoln
authors: L
authors: Stein
authors: Ghazi Omar
authors: GO
authors: Tadmouri
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authors: Taylor
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authors: Watson
mesh_terms: D030342:Genetic Diseases, Inborn / Q000145:classification / Q000235:genetics; D015894:Genome, Human; D017408:Guidelines as Topic; D016045:Human Genome Project; D006801:Humans; D011110:Polymorphism, Genetic; D014944:World Health Organization