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 Gibbs; Judith 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

doi:10.1038/ng2024

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

Molecular and Medical Genetics

Research output: Contribution to journal › Review article › peer-review

55 Scopus citations

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.

Original language	English (US)
Pages (from-to)	433-436
Number of pages	4
Journal	Nature genetics
Volume	39
Issue number	4
DOIs	https://doi.org/10.1038/ng2024
State	Published - Apr 2007

ASJC Scopus subject areas

Genetics

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10.1038/ng2024

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Cotton, R. G. H., Appelbe, W., Auerbach, A. D., Becker, K., Bodmer, W., Boone, D. J., Boulyjenkov, V., Brahmachari, S., Brody, L., Brookes, A., Brown, A. F., Byers, P., Maria Cantu, J., Cassiman, J. J., Claustres, M., Concannon, P., Cotton, R. G. H., Den Dunnen, J. T., Flicek, P., ... Watson, M. (2007). Recommendations of the 2006 Human Variome Project meeting. Nature genetics, 39(4), 433-436. https://doi.org/10.1038/ng2024

Cotton, RGH, Appelbe, W, Auerbach, AD, Becker, K, Bodmer, W, Boone, DJ, Boulyjenkov, V, Brahmachari, S, Brody, L, Brookes, A, Brown, AF, Byers, P, Maria Cantu, J, Cassiman, JJ, Claustres, M, Concannon, P, Cotton, RGH, Den Dunnen, JT, Flicek, P, Gibbs, R, Hall, J, Hasler, J, Katz, M, Kwok, PY, Laradi, S, Lindblom, A, Maglott, D, Marsh, S, Masimirembwa, CM, Minoshima, S, De Ramirez, AMO, Pagon, R, Ramesar, R, Ravine, D, Richards, S, Rimoin, D, Ring, HZ, Scriver, CR, Sherry, S, Shimizu, N, Stein, L, Tadmouri, GO, Taylor, G & Watson, M 2007, 'Recommendations of the 2006 Human Variome Project meeting', Nature genetics, vol. 39, no. 4, pp. 433-436. https://doi.org/10.1038/ng2024

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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.",

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

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doi = "10.1038/ng2024",

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AU - Cotton, Richard G.H.

AU - Appelbe, William

AU - Auerbach, Arleen D.

AU - Becker, Kevin

AU - Bodmer, Walter

AU - Boone, D. Joe

AU - Boulyjenkov, Victor

AU - Brahmachari, Samir

AU - Brody, Lawrence

AU - Brookes, Anthony

AU - Brown, Alastair F.

AU - Byers, Peter

AU - Maria Cantu, Jose

AU - Cassiman, Jean Jacques

AU - Claustres, Mireille

AU - Concannon, Patrick

AU - Cotton, Richard G.H.

AU - Den Dunnen, Johan T.

AU - Flicek, Paul

AU - Gibbs, Richard

AU - Hall, Judith

AU - Hasler, Julia

AU - Katz, Michael

AU - Kwok, Pui Yan

AU - Laradi, Sandrine

AU - Lindblom, Annika

AU - Maglott, Donna

AU - Marsh, Steven

AU - Masimirembwa, Collen Muto

AU - Minoshima, Shinsei

AU - De Ramirez, Ana Maria Oller

AU - Pagon, Roberta

AU - Ramesar, Raj

AU - Ravine, David

AU - Richards, Sue

AU - Rimoin, David

AU - Ring, Huijun Z.

AU - Scriver, Charles R.

AU - Sherry, Stephen

AU - Shimizu, Nobuyoshi

AU - Stein, Lincoln

AU - Tadmouri, Ghazi Omar

AU - Taylor, Graham

AU - Watson, Michael

PY - 2007/4

Y1 - 2007/4

N2 - 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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JO - Nature genetics

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Recommendations of the 2006 Human Variome Project meeting

Abstract

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