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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)496-510
Number of pages15
JournalHuman Mutation
Volume30
Issue number4
DOIs
Publication statusPublished - Apr 2009

Keywords

  • Database
  • Genetic disease
  • Genome
  • Mutation
  • Variome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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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