Planning the Human Variome Project: The Spain Report

J Kaput; R Cotton; L Hardman; M Watson; A Al Aqeel; J Al-Aama; F Al-Mulla; S Alonso; S Aretz; A Auerbach; B Bapat; I Bernstein; J Bhak; S Bleoo; H Blocker; S Brenner; J Burn; M Bustamante; R Calone; A Cambon-Thomsen; M Cargill; P Carrera; L Cavedon; Y Cho; Y Chung; M Claustres; G Cutting; R Dalgleish; J den Dunnen; C Diaz; S Dobrowolski; M dos Santos; R Ekong; S Flanagan; P Flicek; Y Furukawa; Maurizio Genuardi; H Ghang; M Golubenko; M Greenblatt; A Hamosh; J Hancock; R Hardison; T Harrison; R Hoffmann; R Horaitis; H Howard; C Barash; N Izagirre; J Jung; T Kojima; S Laradi; Y Lee; J Lee; V Gil-da-Silva-Lopes; F Macrae; D Maglott; M Marafie; S Marsh; Y Matsubara; L Messiaen; G Moslein; M Netea; M Norton; P Oefner; W Oetting; J O'Leary; A de Ramirez; M Paalman; J Parboosingh; G Patrinos; G Perozzi; I Phillips; S Povey; S Prasad; M Qi; Dario Quinzani; R Ramesar; C Richards; J Savige; D Scheible; R Scott; D Seminara; E Shephard; R Sijmons; T Smith; M Sobrido; T Tanaka; S Tavtigian; G Taylor; J Teague; T Topel; M Ullman-Cullere; J Utsunomiya; H van Kranen; M Vihinen; E Webb; Bertram Weber; M Yeager; Y Yeom; S Yim; H Yoo

doi:10.1002/humu.20972

Planning the Human Variome Project: The Spain Report

J Kaput, R Cotton, L Hardman, M Watson, A Al Aqeel, J Al-Aama, F Al-Mulla, S Alonso, S Aretz, A Auerbach, B Bapat, I Bernstein, J Bhak, S Bleoo, H Blocker, S Brenner, J Burn, M Bustamante, R Calone, A Cambon-ThomsenM Cargill, P Carrera, L Cavedon, Y Cho, Y Chung, M Claustres, G Cutting, R Dalgleish, J den Dunnen, C Diaz, S Dobrowolski, M dos Santos, R Ekong, S Flanagan, P Flicek, Y Furukawa, Maurizio Genuardi, H Ghang, M Golubenko, M Greenblatt, A Hamosh, J Hancock, R Hardison, T Harrison, R Hoffmann, R Horaitis, H Howard, C Barash, N Izagirre, J Jung, T Kojima, S Laradi, Y Lee, J Lee, V Gil-da-Silva-Lopes, F Macrae, D Maglott, M Marafie, S Marsh, Y Matsubara, L Messiaen, G Moslein, M Netea, M Norton, P Oefner, W Oetting, J O'Leary, A de Ramirez, M Paalman, J Parboosingh, G Patrinos, G Perozzi, I Phillips, S Povey, S Prasad, M Qi, Dario Quinzani, R Ramesar, C Richards, J Savige, D Scheible, R Scott, D Seminara, E Shephard, R Sijmons, T Smith, M Sobrido, T Tanaka, S Tavtigian, G Taylor, J Teague, T Topel, M Ullman-Cullere, J Utsunomiya, H van Kranen, M Vihinen, E Webb, Bertram Weber, M Yeager, Y Yeom, S Yim, H Yoo

Risultato della ricerca: Contributo in rivista › Articolo in rivista

39 Citazioni (Scopus)

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., microarrays) 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. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.

Lingua originale	English
pagine (da-a)	496-510
Numero di pagine	15
Rivista	Human Mutation
Volume	30
DOI	https://doi.org/10.1002/humu.20972
Stato di pubblicazione	Pubblicato - 2009

Keywords

DEVELOPING-COUNTRIES
GENETIC-VARIATION
GLOBAL HEALTH
GRAND CHALLENGES
HUMAN GENOME
HUMAN-DISEASE
INTERNATIONAL HAPMAP PROJECT
LOCUS-SPECIFIC DATABASES
MISSENSE VARIANTS
MUTATION DATABASE

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10.1002/humu.20972

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Kaput, J., Cotton, R., Hardman, L., Watson, M., Al Aqeel, A., Al-Aama, J., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A., Bapat, B., Bernstein, I., Bhak, J., Bleoo, S., Blocker, H., Brenner, S., Burn, J., Bustamante, M., Calone, R., ... Yoo, H. (2009). Planning the Human Variome Project: The Spain Report. Human Mutation, 30, 496-510. https://doi.org/10.1002/humu.20972

@article{eba91a495c514bb599c15a195b1cff53,

title = "Planning the Human Variome Project: The Spain Report",

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., microarrays) 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. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.",

keywords = "DEVELOPING-COUNTRIES, GENETIC-VARIATION, GLOBAL HEALTH, GRAND CHALLENGES, HUMAN GENOME, HUMAN-DISEASE, INTERNATIONAL HAPMAP PROJECT, LOCUS-SPECIFIC DATABASES, MISSENSE VARIANTS, MUTATION DATABASE, DEVELOPING-COUNTRIES, GENETIC-VARIATION, GLOBAL HEALTH, GRAND CHALLENGES, HUMAN GENOME, HUMAN-DISEASE, INTERNATIONAL HAPMAP PROJECT, LOCUS-SPECIFIC DATABASES, MISSENSE VARIANTS, MUTATION DATABASE",

author = "J Kaput and R Cotton and L Hardman and M Watson and {Al Aqeel}, A and J Al-Aama and F Al-Mulla and S Alonso and S Aretz and A Auerbach and B Bapat and I Bernstein and J Bhak and S Bleoo and H Blocker and S Brenner and J Burn and M Bustamante and R Calone and A Cambon-Thomsen and M Cargill and P Carrera and L Cavedon and Y Cho and Y Chung and M Claustres and G Cutting and R Dalgleish and {den Dunnen}, J and C Diaz and S Dobrowolski and {dos Santos}, M and R Ekong and S Flanagan and P Flicek and Y Furukawa and Maurizio Genuardi and H Ghang and M Golubenko and M Greenblatt and A Hamosh and J Hancock and R Hardison and T Harrison and R Hoffmann and R Horaitis and H Howard and C Barash and N Izagirre and J Jung and T Kojima and S Laradi and Y Lee and J Lee and V Gil-da-Silva-Lopes and F Macrae and D Maglott and M Marafie and S Marsh and Y Matsubara and L Messiaen and G Moslein and M Netea and M Norton and P Oefner and W Oetting and J O'Leary and {de Ramirez}, A and M Paalman and J Parboosingh and G Patrinos and G Perozzi and I Phillips and S Povey and S Prasad and M Qi and Dario Quinzani and R Ramesar and C Richards and J Savige and D Scheible and R Scott and D Seminara and E Shephard and R Sijmons and T Smith and M Sobrido and T Tanaka and S Tavtigian and G Taylor and J Teague and T Topel and M Ullman-Cullere and J Utsunomiya and {van Kranen}, H and M Vihinen and E Webb and Bertram Weber and M Yeager and Y Yeom and S Yim and H Yoo",

year = "2009",

doi = "10.1002/humu.20972",

language = "English",

volume = "30",

pages = "496--510",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

}

Kaput, J, Cotton, R, Hardman, L, Watson, M, Al Aqeel, A, Al-Aama, J, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, A, Bapat, B, Bernstein, I, Bhak, J, Bleoo, S, Blocker, H, Brenner, S, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, Y, Chung, Y, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, J, Diaz, C, Dobrowolski, S, dos Santos, M, Ekong, R, Flanagan, S, Flicek, P, Furukawa, Y, Genuardi, M, Ghang, H, Golubenko, M, Greenblatt, M, Hamosh, A, Hancock, J, Hardison, R, Harrison, T, Hoffmann, R, Horaitis, R, Howard, H, Barash, C, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y, Lee, J, Gil-da-Silva-Lopes, V, Macrae, F, Maglott, D, Marafie, M, Marsh, S, Matsubara, Y, Messiaen, L, Moslein, G, Netea, M, Norton, M, Oefner, P, Oetting, W, O'Leary, J, de Ramirez, A, Paalman, M, Parboosingh, J, Patrinos, G, Perozzi, G, Phillips, I, Povey, S, Prasad, S, Qi, M, Quinzani, D, Ramesar, R, Richards, C, Savige, J, Scheible, D, Scott, R, Seminara, D, Shephard, E, Sijmons, R, Smith, T, Sobrido, M, Tanaka, T, Tavtigian, S, Taylor, G, Teague, J, Topel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, H, Vihinen, M, Webb, E, Weber, B, Yeager, M, Yeom, Y, Yim, S & Yoo, H 2009, 'Planning the Human Variome Project: The Spain Report', Human Mutation, vol. 30, pagg. 496-510. https://doi.org/10.1002/humu.20972

TY - JOUR

T1 - Planning the Human Variome Project: The Spain Report

AU - Kaput, J

AU - Cotton, R

AU - Hardman, L

AU - Watson, M

AU - Al Aqeel, A

AU - Al-Aama, J

AU - Al-Mulla, F

AU - Alonso, S

AU - Aretz, S

AU - Auerbach, A

AU - Bapat, B

AU - Bernstein, I

AU - Bhak, J

AU - Bleoo, S

AU - Blocker, H

AU - Brenner, S

AU - Burn, J

AU - Bustamante, M

AU - Calone, R

AU - Cambon-Thomsen, A

AU - Cargill, M

AU - Carrera, P

AU - Cavedon, L

AU - Cho, Y

AU - Chung, Y

AU - Claustres, M

AU - Cutting, G

AU - Dalgleish, R

AU - den Dunnen, J

AU - Diaz, C

AU - Dobrowolski, S

AU - dos Santos, M

AU - Ekong, R

AU - Flanagan, S

AU - Flicek, P

AU - Furukawa, Y

AU - Genuardi, Maurizio

AU - Ghang, H

AU - Golubenko, M

AU - Greenblatt, M

AU - Hamosh, A

AU - Hancock, J

AU - Hardison, R

AU - Harrison, T

AU - Hoffmann, R

AU - Horaitis, R

AU - Howard, H

AU - Barash, C

AU - Izagirre, N

AU - Jung, J

AU - Kojima, T

AU - Laradi, S

AU - Lee, Y

AU - Lee, J

AU - Gil-da-Silva-Lopes, V

AU - Macrae, F

AU - Maglott, D

AU - Marafie, M

AU - Marsh, S

AU - Matsubara, Y

AU - Messiaen, L

AU - Moslein, G

AU - Netea, M

AU - Norton, M

AU - Oefner, P

AU - Oetting, W

AU - O'Leary, J

AU - de Ramirez, A

AU - Paalman, M

AU - Parboosingh, J

AU - Patrinos, G

AU - Perozzi, G

AU - Phillips, I

AU - Povey, S

AU - Prasad, S

AU - Qi, M

AU - Quinzani, Dario

AU - Ramesar, R

AU - Richards, C

AU - Savige, J

AU - Scheible, D

AU - Scott, R

AU - Seminara, D

AU - Shephard, E

AU - Sijmons, R

AU - Smith, T

AU - Sobrido, M

AU - Tanaka, T

AU - Tavtigian, S

AU - Taylor, G

AU - Teague, J

AU - Topel, T

AU - Ullman-Cullere, M

AU - Utsunomiya, J

AU - van Kranen, H

AU - Vihinen, M

AU - Webb, E

AU - Weber, Bertram

AU - Yeager, M

AU - Yeom, Y

AU - Yim, S

AU - Yoo, H

PY - 2009

Y1 - 2009

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., microarrays) 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. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.

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., microarrays) 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. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.

KW - DEVELOPING-COUNTRIES

KW - GENETIC-VARIATION

KW - GLOBAL HEALTH

KW - GRAND CHALLENGES

KW - HUMAN GENOME

KW - HUMAN-DISEASE

KW - INTERNATIONAL HAPMAP PROJECT

KW - LOCUS-SPECIFIC DATABASES

KW - MISSENSE VARIANTS

KW - MUTATION DATABASE

KW - DEVELOPING-COUNTRIES

KW - GENETIC-VARIATION

KW - GLOBAL HEALTH

KW - GRAND CHALLENGES

KW - HUMAN GENOME

KW - HUMAN-DISEASE

KW - INTERNATIONAL HAPMAP PROJECT

KW - LOCUS-SPECIFIC DATABASES

KW - MISSENSE VARIANTS

KW - MUTATION DATABASE

UR - http://hdl.handle.net/10807/148711

U2 - 10.1002/humu.20972

DO - 10.1002/humu.20972

M3 - Article

SN - 1059-7794

VL - 30

SP - 496

EP - 510

JO - Human Mutation

JF - Human Mutation

ER -

Planning the Human Variome Project: The Spain Report

Abstract

Keywords

OSS delle Nazioni Unite

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