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Planning the human variome project: the Spain report.

Kaput, Jim; Cotton, Richard G H; Hardman, Lauren; Watson, Michael; Al Aqeel, Aida I; Al-Aama, Jumana Y; Al-Mulla, Fahd; Alonso, Santos; Aretz, Stefan and Auerbach, Arleen D, et al. (2009) In Human Mutation 30(4). p.496-510
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... (More)
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. (Less)
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published
subject
keywords
Computational Biology: methods, Computational Biology: standards, Genome, Human: genetics
in
Human Mutation
volume
30
issue
4
pages
496 - 510
publisher
John Wiley & Sons
external identifiers
  • pmid:19306394
  • scopus:63749103607
ISSN
1059-7794
DOI
10.1002/humu.20972
language
English
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no
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423a19b9-d17c-4d22-a940-c96af0a060d4 (old id 3634822)
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http://www.ncbi.nlm.nih.gov/pubmed/19306394?dopt=Abstract
date added to LUP
2013-06-12 20:36:28
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2017-12-10 04:41:24
@article{423a19b9-d17c-4d22-a940-c96af0a060d4,
  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.},
  author       = {Kaput, Jim and Cotton, Richard G H and Hardman, Lauren and Watson, Michael and Al Aqeel, Aida I and Al-Aama, Jumana Y and Al-Mulla, Fahd and Alonso, Santos and Aretz, Stefan and Auerbach, Arleen D and Bapat, Bharati and Bernstein, Inge T and Bhak, Jong and Bleoo, Stacey L and Blöcker, Helmut and Brenner, Steven E and Burn, John and Bustamante, Mariona and Calzone, Rita and Cambon-Thomsen, Anne and Cargill, Michele and Carrera, Paola and Cavedon, Lawrence and Cho, Yoon Shin and Chung, Yeun-Jun and Claustres, Mireille and Cutting, Garry and Dalgleish, Raymond and den Dunnen, Johan T and Díaz, Carlos and Dobrowolski, Steven and dos Santos, M Rosário N and Ekong, Rosemary and Flanagan, Simon B and Flicek, Paul and Furukawa, Yoichi and Genuardi, Maurizio and Ghang, Ho and Golubenko, Maria V and Greenblatt, Marc S and Hamosh, Ada and Hancock, John M and Hardison, Ross and Harrison, Terence M and Hoffmann, Robert and Horaitis, Rania and Howard, Heather J and Barash, Carol Isaacson and Izagirre, Neskuts and Jung, Jongsun and Kojima, Toshio and Laradi, Sandrine and Lee, Yeon-Su and Lee, Jong-Young and Gil-da-Silva-Lopes, Vera L and Macrae, Finlay A and Maglott, Donna and Marafie, Makia J and Marsh, Steven G E and Matsubara, Yoichi and Messiaen, Ludwine M and Möslein, Gabriela 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 Parboosingh, Jillian and Patrinos, George P and Perozzi, Giuditta and Phillips, Ian R and Povey, Sue and Prasad, Suyash and Qi, Ming and Quin, David J and Ramesar, Rajkumar S and Richards, C Sue and Savige, Judith and Scheible, Dagmar G and Scott, Rodney J and Seminara, Daniela and Shephard, Elizabeth A and Sijmons, Rolf H and Smith, Timothy D and Sobrido, María-Jesús and Tanaka, Toshihiro and Tavtigian, Sean V and Taylor, Graham R and Teague, Jon and Töpel, Thoralf and Ullman-Cullere, Mollie and Utsunomiya, Joji and van Kranen, Henk J and Vihinen, Mauno and Webb, Elizabeth and Weber, Thomas K and Yeager, Meredith and Yeom, Young I and Yim, Seon-Hee and Yoo, Hyang-Sook},
  issn         = {1059-7794},
  keyword      = {Computational Biology: methods,Computational Biology: standards,Genome,Human: genetics},
  language     = {eng},
  number       = {4},
  pages        = {496--510},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Planning the human variome project: the Spain report.},
  url          = {http://dx.doi.org/10.1002/humu.20972},
  volume       = {30},
  year         = {2009},
}