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 Blöcker; 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; NN NN

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 Blöcker, 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, NN NN

Gastroenheden AHH

43 Citationer (Scopus)

Abstract

Udgivelsesdato: 2009-Apr

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	30
Udgave nummer	4
Sider (fra-til)	496-510
Antal sider	14
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.20972
Status	Udgivet - 2009

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10.1002/humu.20972

Citationsformater

Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcker, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., ... NN, NN. (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, Al Aqeel, AI, Al-Aama, JY, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, AD, Bapat, B, Bernstein, IT, Bhak, J, Bleoo, SL, Blöcker, H, Brenner, SE, Burn, J, Bustamante, M, Calzone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, YS, Chung, Y-J, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, JT, Díaz, C, Dobrowolski, S, dos Santos, MRN, 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, Y-S, Lee, J-Y, 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, Phillips, IR, 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, M-J, 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, S-H, Yoo, H-S & NN, NN 2009, 'Planning the human variome project: the Spain report', Human Mutation, bind 30, nr. 4, s. 496-510. https://doi.org/10.1002/humu.20972

@article{937e9d38311a47669205dfbb5177b90a,

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.",

keywords = "Computational Biology, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genotype, Humans, Information Dissemination, Mutation, Phenotype, Polymorphism, Genetic, Spain",

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

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.",

number = "4",

}

TY - JOUR

T1 - Planning the human variome project: the Spain report

AU - Kaput, Jim

AU - Cotton, Richard G H

AU - Hardman, Lauren

AU - Watson, Michael

AU - Al Aqeel, Aida I

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 - Blöcker, 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 - den Dunnen, Johan T

AU - Díaz, Carlos

AU - Dobrowolski, Steven

AU - dos Santos, M Rosário N

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

AU - Matsubara, Yoichi

AU - Messiaen, Ludwine M

AU - Möslein, Gabriela

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 - Phillips, Ian R

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

AU - NN, NN

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.

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.

KW - Computational Biology

KW - Databases, Genetic

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genome, Human

KW - Genotype

KW - Humans

KW - Information Dissemination

KW - Mutation

KW - Phenotype

KW - Polymorphism, Genetic

KW - Spain

U2 - 10.1002/humu.20972

DO - 10.1002/humu.20972

M3 - Journal article

C2 - 19306394

SN - 1059-7794

VL - 30

SP - 496

EP - 510

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -

Planning the human variome project: the Spain report

Abstract

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