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.
Cotton
Richard G H
RG
Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. cotton@unimelb.edu.au
Appelbe
William
W
Auerbach
Arleen D
AD
Becker
Kevin
K
Bodmer
Walter
W
Boone
D Joe
DJ
Boulyjenkov
Victor
V
Brahmachari
Samir
S
Brody
Lawrence
L
Brookes
Anthony
A
Brown
Alastair F
AF
Byers
Peter
P
Cantu
Jose Maria
JM
Cassiman
Jean-Jacques
JJ
Claustres
Mireille
M
Concannon
Patrick
P
Cotton
Richard G H
RG
den Dunnen
Johan T
JT
Flicek
Paul
P
Gibbs
Richard
R
Hall
Judith
J
Hasler
Julia
J
Katz
Michael
M
Kwok
Pui-Yan
PY
Laradi
Sandrine
S
Lindblom
Annika
A
Maglott
Donna
D
Marsh
Steven
S
Masimirembwa
Collen Muto
CM
Minoshima
Shinsei
S
de Ramirez
Ana Maria Oller
AM
Pagon
Roberta
R
Ramesar
Raj
R
Ravine
David
D
Richards
Sue
S
Rimoin
David
D
Ring
Huijun Z
HZ
Scriver
Charles R
CR
Sherry
Stephen
S
Shimizu
Nobuyoshi
N
Stein
Lincoln
L
Tadmouri
Ghazi Omar
GO
Taylor
Graham
G
Watson
Michael
M
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