Planning the human variome project: The Spain report

Jim Kaput; Richard G.H. Cotton; Lauren Hardman; Michael Watson; Aida I.Al Aqeel; Jumana Y. Al-Aama; Fahd Al-Mulla; Santos Alonso; Stefan Aretz; Arleen D. Auerbach; Bharati Bapat; Inge T. Bernstein; Jong Bhak; Stacey L. Bleoo; Helmut Blöcer; Steven E. Brenner; John Burn; Mariona Bustamante; Rita Calzone; Anne Cambon-Thomsen; Michele Cargill; Paola Carrera; Lawrence Cavedon; Yoon Shin Cho; Yeun Jun Chung; Mireille Claustres; Garry Cutting; Raymond Dalgleish; Johan T.Den Dunnen; Carlos Díaz; Steven Dobrowolski; M. Rosário N.Dos Santos; Rosemary Ekong; Simon B. Flanagan; Paul Flicek; Yoichi Furukawa; Maurizio Genuardi; Ho Ghang; Maria V. Golubenko; Marc S. Greenblatt; Ada Hamosh; John M. Hancock; Ross Hardison; Terence M. Harrison; Robert Hoffmann; Rania Horaitis; Heather J. Howard; Carol Isaacson Barash; Neskuts Izagirre; Jongsun Jung; Toshio Kojima; Sandrine Laradi; Yeon Su Lee; Jong Young Lee; Vera L. Gil-da-Silva-Lopes; Finlay A. Macrae; Donna Maglott; Makia J. Marafie; Steven G.E. Marsh; Yoichi Matsubara; Ludwine M. Messiaen; Gabriela Möslein; Mihai G. Netea; Melissa L. Norton; Peter J. Oefner; William S. Oetting; James C. O'Leary; Ana Maria Oller De Ramirez; Mark H. Paalman; Jillian Parboosingh; George P. Patrinos; Giuditta Perozzi; Ian R.Phillips; Sue Povey; Suyash Prasad; Ming Qi; David J. Quin; Rajkumar S. Ramesar; C. Sue Richards; Judith Savige; Dagmar G. Scheible; Rodney J. Scott; Daniela Seminara; Elizabeth A. Shephard; Rolf H. Sijmons; Timothy D. Smith; María Jesús Sobrido; Toshihiro Tanaka; Sean V. Tavtigian; Graham R. Taylor; Jon Teague; Thoralf Töpel; Mollie Ullman-Cullere; Joji Utsunomiya; Henk J. Van Kranen; Mauno Vihinen; Elizabeth Webb; Thomas K. Weber; Meredith Yeager; Young I. Yeom; Seon Hee Yim; Hyang Sook Yoo

doi:10.1002/humu.20972

Planning the human variome project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I.Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, Jong Bhak, Stacey L. Bleoo, Helmut Blöcer, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon-ThomsenMichele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun Jun Chung, Mireille Claustres, Garry Cutting, Raymond Dalgleish, Johan T.Den Dunnen, Carlos Díaz, Steven Dobrowolski, M. Rosário N.Dos Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, Maria V. Golubenko, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross Hardison, Terence M. Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon Su Lee, Jong Young Lee, Vera L. Gil-da-Silva-Lopes, Finlay A. Macrae, Donna Maglott, Makia J. Marafie, Steven G.E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa L. Norton, Peter J. Oefner, William S. Oetting, James C. O'Leary, Ana Maria Oller De Ramirez, Mark H. Paalman, Jillian Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian R.Phillips, Sue Povey, Suyash Prasad, Ming Qi, David J. Quin, Rajkumar S. Ramesar, C. Sue Richards, Judith Savige, Dagmar G. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Timothy D. Smith, María Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J. Van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young I. Yeom, Seon Hee Yim, Hyang Sook Yoo

School of Medicine

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

39 Scopus citations

Abstract

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., micro-arrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.

Original language	English (US)
Pages (from-to)	496-510
Number of pages	15
Journal	Human mutation
Volume	30
Issue number	4
DOIs	https://doi.org/10.1002/humu.20972
State	Published - Apr 2009

Keywords

Database
Genetic disease
Genome
Mutation
Variome

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.20972

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Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Aqeel, A. I. A., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcer, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., ... Yoo, H. S. (2009). Planning the human variome project: The Spain report. Human mutation, 30(4), 496-510. https://doi.org/10.1002/humu.20972

Kaput, J, Cotton, RGH, Hardman, L, Watson, M, Aqeel, AIA, Al-Aama, JY, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, AD, Bapat, B, Bernstein, IT, Bhak, J, Bleoo, SL, Blöcer, H, Brenner, SE, Burn, J, Bustamante, M, Calzone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, YS, Chung, YJ, Claustres, M, Cutting, G, Dalgleish, R, Dunnen, JTD, Díaz, C, Dobrowolski, S, Santos, MRND, Ekong, R, Flanagan, SB, Flicek, P, Furukawa, Y, Genuardi, M, Ghang, H, Golubenko, MV, Greenblatt, MS, Hamosh, A, Hancock, JM, Hardison, R, Harrison, TM, Hoffmann, R, Horaitis, R, Howard, HJ, Barash, CI, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, YS, Lee, JY, Gil-da-Silva-Lopes, VL, Macrae, FA, Maglott, D, Marafie, MJ, Marsh, SGE, Matsubara, Y, Messiaen, LM, Möslein, G, Netea, MG, Norton, ML, Oefner, PJ, Oetting, WS, O'Leary, JC, De Ramirez, AMO, Paalman, MH, Parboosingh, J, Patrinos, GP, Perozzi, G, R.Phillips, I, Povey, S, Prasad, S, Qi, M, Quin, DJ, Ramesar, RS, Richards, CS, Savige, J, Scheible, DG, Scott, RJ, Seminara, D, Shephard, EA, Sijmons, RH, Smith, TD, Sobrido, MJ, Tanaka, T, Tavtigian, SV, Taylor, GR, Teague, J, Töpel, T, Ullman-Cullere, M, Utsunomiya, J, Van Kranen, HJ, Vihinen, M, Webb, E, Weber, TK, Yeager, M, Yeom, YI, Yim, SH & Yoo, HS 2009, 'Planning the human variome project: The Spain report', Human mutation, vol. 30, no. 4, pp. 496-510. https://doi.org/10.1002/humu.20972

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abstract = "The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., micro-arrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.",

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year = "2009",

month = apr,

doi = "10.1002/humu.20972",

language = "English (US)",

volume = "30",

pages = "496--510",

journal = "Human mutation",

issn = "1059-7794",

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TY - JOUR

T1 - Planning the human variome project

T2 - The Spain report

AU - Kaput, Jim

AU - Cotton, Richard G.H.

AU - Hardman, Lauren

AU - Watson, Michael

AU - Aqeel, Aida I.Al

AU - Al-Aama, Jumana Y.

AU - Al-Mulla, Fahd

AU - Alonso, Santos

AU - Aretz, Stefan

AU - Auerbach, Arleen D.

AU - Bapat, Bharati

AU - Bernstein, Inge T.

AU - Bhak, Jong

AU - Bleoo, Stacey L.

AU - Blöcer, Helmut

AU - Brenner, Steven E.

AU - Burn, John

AU - Bustamante, Mariona

AU - Calzone, Rita

AU - Cambon-Thomsen, Anne

AU - Cargill, Michele

AU - Carrera, Paola

AU - Cavedon, Lawrence

AU - Cho, Yoon Shin

AU - Chung, Yeun Jun

AU - Claustres, Mireille

AU - Cutting, Garry

AU - Dalgleish, Raymond

AU - Dunnen, Johan T.Den

AU - Díaz, Carlos

AU - Dobrowolski, Steven

AU - Santos, M. Rosário N.Dos

AU - Ekong, Rosemary

AU - Flanagan, Simon B.

AU - Flicek, Paul

AU - Furukawa, Yoichi

AU - Genuardi, Maurizio

AU - Ghang, Ho

AU - Golubenko, Maria V.

AU - Greenblatt, Marc S.

AU - Hamosh, Ada

AU - Hancock, John M.

AU - Hardison, Ross

AU - Harrison, Terence M.

AU - Hoffmann, Robert

AU - Horaitis, Rania

AU - Howard, Heather J.

AU - Barash, Carol Isaacson

AU - Izagirre, Neskuts

AU - Jung, Jongsun

AU - Kojima, Toshio

AU - Laradi, Sandrine

AU - Lee, Yeon Su

AU - Lee, Jong Young

AU - Gil-da-Silva-Lopes, Vera L.

AU - Macrae, Finlay A.

AU - Maglott, Donna

AU - Marafie, Makia J.

AU - Marsh, Steven G.E.

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AU - Messiaen, Ludwine M.

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AU - Netea, Mihai G.

AU - Norton, Melissa L.

AU - Oefner, Peter J.

AU - Oetting, William S.

AU - O'Leary, James C.

AU - De Ramirez, Ana Maria Oller

AU - Paalman, Mark H.

AU - Parboosingh, Jillian

AU - Patrinos, George P.

AU - Perozzi, Giuditta

AU - R.Phillips, Ian

AU - Povey, Sue

AU - Prasad, Suyash

AU - Qi, Ming

AU - Quin, David J.

AU - Ramesar, Rajkumar S.

AU - Richards, C. Sue

AU - Savige, Judith

AU - Scheible, Dagmar G.

AU - Scott, Rodney J.

AU - Seminara, Daniela

AU - Shephard, Elizabeth A.

AU - Sijmons, Rolf H.

AU - Smith, Timothy D.

AU - Sobrido, María Jesús

AU - Tanaka, Toshihiro

AU - Tavtigian, Sean V.

AU - Taylor, Graham R.

AU - Teague, Jon

AU - Töpel, Thoralf

AU - Ullman-Cullere, Mollie

AU - Utsunomiya, Joji

AU - Van Kranen, Henk J.

AU - Vihinen, Mauno

AU - Webb, Elizabeth

AU - Weber, Thomas K.

AU - Yeager, Meredith

AU - Yeom, Young I.

AU - Yim, Seon Hee

AU - Yoo, Hyang Sook

PY - 2009/4

Y1 - 2009/4

N2 - The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., micro-arrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.

AB - The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., micro-arrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.

KW - Database

KW - Genetic disease

KW - Genome

KW - Mutation

KW - Variome

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U2 - 10.1002/humu.20972

DO - 10.1002/humu.20972

M3 - Review article

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VL - 30

SP - 496

EP - 510

JO - Human mutation

JF - Human mutation

IS - 4

ER -

Planning the human variome project: The Spain report

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