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Title: Planning the Human Variome Project: The Spain Report
Authors: 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
Scheible, Dagmar G.
Scott, Rodney J.
Seminara, Daniela
Shephard, Elizabeth A.
Sijmons, Rolf H.
Smith, Timothy D.
Sobrido, María-Jesús
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
Yoo, Hyang-Sook
Bernstein, Inge T.
Bhak, Jong
Bleoo, Stacey L.
Blöcker, Helmut
Brenner, Steven E.
Burn, John
Bustamante, Mariona
Calzone, 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.
Díaz, Carlos
Dobrowolski, Steven
dos Santos, M. Rosário 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.
Möslein, 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
First Published: 20-Jan-2009
Publisher: Wiley-Blackwell
Citation: Human Mutation, 2009, 30(4), pp. 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. Since 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; 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.
DOI Link: 10.1002/humu.20972
ISSN: 1059-7794
Type: Article
Description: This is the pre-peer reviewed version of the following article: Dalgleish, R. et al., Planning the Human Variome Project: The Spain Report, Human Mutation, 2009, 30(4), pp. 496-510, which has been published in final form at, Doi: 10.1002/humu.20972.
Appears in Collections:Published Articles, Dept. of Genetics

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