Recommendations of the 2006 Human Variome Project Meeting

R.G.H. Cotton; W. Appelbe; A.D. Auerbach; K. Becker; W. Bodmer; D.J. Boone; V. Boulyjenkov; S. Brahmachari; L. Brody; A. Brookes; A.F. Brown; P. Byers; J.M. Cantu; J.J. Cassiman; M. Claustres; P. Concannon; J.T. Den Dunnen; P. Flicek; R. Gibbs; J. Hall; J. Hasler; M. Katz; P. Kwok; S. Laradi; A. Lindblom; D. Maglott; S.P. Marsh; C.M. Masimirembwa; S. Minoshima; A.M. Oller De Ramirez; R. Pagon; R. Ramesar; David Ravine; S. Richards; D. Rimoin; H.Z. Ring; C.R. Scriver; S. Sherry; N. Shimizu; L. Stein; G.O. Tadmouri; G. Taylor; M. Watson

doi:10.1038/ng2024

Recommendations of the 2006 Human Variome Project Meeting

R.G.H. Cotton, W. Appelbe, A.D. Auerbach, K. Becker, W. Bodmer, D.J. Boone, V. Boulyjenkov, S. Brahmachari, L. Brody, A. Brookes, A.F. Brown, P. Byers, J.M. Cantu, J.J. Cassiman, M. Claustres, P. Concannon, J.T. Den Dunnen, P. Flicek, R. Gibbs, J. HallJ. Hasler, M. Katz, P. Kwok, S. Laradi, A. Lindblom, D. Maglott, S.P. Marsh, C.M. Masimirembwa, S. Minoshima, A.M. Oller De Ramirez, R. Pagon, R. Ramesar, David Ravine, S. Richards, D. Rimoin, H.Z. Ring, C.R. Scriver, S. Sherry, N. Shimizu, L. Stein, G.O. Tadmouri, G. Taylor, M. Watson

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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
Pages (from-to)	433-436
Journal	Nature Genetics
Volume	39
Issue number	4
DOIs	https://doi.org/10.1038/ng2024
Publication status	Published - 2007

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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., Cantu, J. M., Cassiman, J. J., Claustres, M., Concannon, P., Den Dunnen, J. T., Flicek, P., Gibbs, R., ... Watson, M. (2007). Recommendations of the 2006 Human Variome Project Meeting. Nature Genetics, 39(4), 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 = "R.G.H. Cotton and W. Appelbe and A.D. Auerbach and K. Becker and W. Bodmer and D.J. Boone and V. Boulyjenkov and S. Brahmachari and L. Brody and A. Brookes and A.F. Brown and P. Byers and J.M. Cantu and J.J. Cassiman and M. Claustres and P. Concannon and {Den Dunnen}, J.T. and P. Flicek and R. Gibbs and J. Hall and J. Hasler and M. Katz and P. Kwok and S. Laradi and A. Lindblom and D. Maglott and S.P. Marsh and C.M. Masimirembwa and S. Minoshima and {Oller De Ramirez}, A.M. and R. Pagon and R. Ramesar and David Ravine and S. Richards and D. Rimoin and H.Z. Ring and C.R. Scriver and S. Sherry and N. Shimizu and L. Stein and G.O. Tadmouri and G. Taylor and M. Watson",

year = "2007",

doi = "10.1038/ng2024",

language = "English",

volume = "39",

pages = "433--436",

journal = "Nature Genetics",

issn = "1061-4036",

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Cotton, RGH, Appelbe, W, Auerbach, AD, Becker, K, Bodmer, W, Boone, DJ, Boulyjenkov, V, Brahmachari, S, Brody, L, Brookes, A, Brown, AF, Byers, P, Cantu, JM, Cassiman, JJ, Claustres, M, Concannon, P, Den Dunnen, JT, Flicek, P, Gibbs, R, Hall, J, Hasler, J, Katz, M, Kwok, P, Laradi, S, Lindblom, A, Maglott, D, Marsh, SP, Masimirembwa, CM, Minoshima, S, Oller De Ramirez, AM, 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

TY - JOUR

T1 - Recommendations of the 2006 Human Variome Project Meeting

AU - Cotton, R.G.H.

AU - Appelbe, W.

AU - Auerbach, A.D.

AU - Becker, K.

AU - Bodmer, W.

AU - Boone, D.J.

AU - Boulyjenkov, V.

AU - Brahmachari, S.

AU - Brody, L.

AU - Brookes, A.

AU - Brown, A.F.

AU - Byers, P.

AU - Cantu, J.M.

AU - Cassiman, J.J.

AU - Claustres, M.

AU - Concannon, P.

AU - Den Dunnen, J.T.

AU - Flicek, P.

AU - Gibbs, R.

AU - Hall, J.

AU - Hasler, J.

AU - Katz, M.

AU - Kwok, P.

AU - Laradi, S.

AU - Lindblom, A.

AU - Maglott, D.

AU - Marsh, S.P.

AU - Masimirembwa, C.M.

AU - Minoshima, S.

AU - Oller De Ramirez, A.M.

AU - Pagon, R.

AU - Ramesar, R.

AU - Ravine, David

AU - Richards, S.

AU - Rimoin, D.

AU - Ring, H.Z.

AU - Scriver, C.R.

AU - Sherry, S.

AU - Shimizu, N.

AU - Stein, L.

AU - Tadmouri, G.O.

AU - Taylor, G.

AU - Watson, M.

PY - 2007

Y1 - 2007

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.

AB - 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.

U2 - 10.1038/ng2024

DO - 10.1038/ng2024

M3 - Review article

SN - 1061-4036

VL - 39

SP - 433

EP - 436

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Recommendations of the 2006 Human Variome Project Meeting

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