Planning the Human Variome Project: The Spain Report

Maurizio Genuardi, Dario Quinzani, Bertram Weber, 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 BurnM 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, 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, 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, M Yeager, Y Yeom, S Yim, H Yoo

Risultato della ricerca: Contributo in rivistaArticolo 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 originaleEnglish
pagine (da-a)496-510
Numero di pagine15
RivistaHuman Mutation
Volume30
DOI
Stato di pubblicazionePubblicato - 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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