Planning the Human Variome Project: The Spain Report

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, et al. (2009)
HUMAN MUTATION 30(4): 496-510.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Abstract / Bemerkung
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.
Stichworte
database; mutation; variome; genome; genetic disease
Erscheinungsjahr
2009
Zeitschriftentitel
HUMAN MUTATION
Band
30
Ausgabe
4
Seite(n)
496-510
ISSN
1059-7794
eISSN
1098-1004
Page URI
https://pub.uni-bielefeld.de/record/1634511

Zitieren

Kaput J, Cotton RGH, Hardman L, et al. Planning the Human Variome Project: The Spain Report. HUMAN MUTATION. 2009;30(4):496-510.
Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., et al. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30(4), 496-510. doi:10.1002/humu.20972
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., et al. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION 30, 496-510.
Kaput, J., et al., 2009. Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30(4), p 496-510.
J. Kaput, et al., “Planning the Human Variome Project: The Spain Report”, HUMAN MUTATION, vol. 30, 2009, pp. 496-510.
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., Bloecker, H., Brenner, S.E., Burn, J., Bustamante, M., Calone, R., Cambon-Thomsen, A., Cargill, M., Carrera, P., Cavedon, L., Cho, Y.S., Chung, Y.-J., Claustres, M., Cutting, G., Dalgleish, R., den Dunnen, J.T., Diaz, C., Dobrowolski, S., dos Santos, M.R.N., Ekong, R., Flanagan, S.B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M.V., Greenblatt, M.S., Hamosh, A., Hancock, J.M., Hardison, R., Harrison, T.M., Hoffmann, R., Horaitis, R., Howard, H.J., Barash, C.I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y.-S., Lee, J.-Y., Gil-da-Silva-Lopes, V.L., Macrae, F.A., Maglott, D., Marafie, M.J., Marsh, S.G.E., Matsubara, Y., Messiaen, L.M., Moeslein, G., Netea, M.G., Norton, M.L., Oefner, P.J., Oetting, W.S., O'Leary, J.C., Oller de Ramirez, A.M., Paalman, M.H., Parboosingh, J., Patrinos, G.P., Perozzi, G., Phillips, I.R., Povey, S., Prasad, S., Qi, M., Quin, D.J., Ramesar, R.S., Richards, C.S., Savige, J., Scheible, D.G., Scott, R.J., Seminara, D., Shephard, E.A., Sijmons, R.H., Smith, T.D., Sobrido, M.-J., Tanaka, T., Tavtigian, S.V., Taylor, G.R., Teague, J., Töpel, T., Ullman-Cullere, M., Utsunomiya, J., van Kranen, H.J., Vihinen, M., Webb, E., Weber, T.K., Yeager, M., Yeom, Y.I., Yim, S.-H., Yoo, H.-S.: Planning the Human Variome Project: The Spain Report. HUMAN MUTATION. 30, 496-510 (2009).
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, Auerbach, Arleen D., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Bloecker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T., Diaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosario N., Ekong, Rosemary, Flanagan, Simon B., Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V., Greenblatt, Marc S., Hamosh, Ada, Hancock, John M., Hardison, Ross, Harrison, Terence M., Hoffmann, Robert, Horaitis, Rania, Howard, Heather J., Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L., Macrae, Finlay A., Maglott, Donna, Marafie, Makia J., Marsh, Steven G. E., Matsubara, Yoichi, Messiaen, Ludwine M., Moeslein, Gabriela, Netea, Mihai G., Norton, Melissa L., Oefner, Peter J., Oetting, William S., O'Leary, James C., Oller de Ramirez, Ana Maria, Paalman, Mark H., Parboosingh, Jillian, Patrinos, George P., Perozzi, Giuditta, Phillips, Ian R., Povey, Sue, Prasad, Suyash, Qi, Ming, Quin, David J., Ramesar, Rajkumar S., Richards, C. Sue, Savige, Judith, Scheible, Dagmar G., Scott, Rodney J., Seminara, Daniela, Shephard, Elizabeth A., Sijmons, Rolf H., Smith, Timothy D., Sobrido, Maria-Jesus, Tanaka, Toshihiro, Tavtigian, Sean V., Taylor, Graham R., Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J., Vihinen, Mauno, Webb, Elizabeth, Weber, Thomas K., Yeager, Meredith, Yeom, Young I., Yim, Seon-Hee, and Yoo, Hyang-Sook. “Planning the Human Variome Project: The Spain Report”. HUMAN MUTATION 30.4 (2009): 496-510.

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