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Bhak, Jong
KOrean GenomIcs Center(KOGIC)
Research Interests
  • Geromics, genomics, bioinformatics, protein Engineering, OMICS

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Planning the Human Variome Project: The Spain Report

Cited 31 times inthomson ciCited 33 times inthomson ci
Title
Planning the Human Variome Project: The Spain Report
Other Titles
Planning the Human Variome Project: The Spain report.
Author
Kaput, JimCotton, Richard G. H.Hardman, LaurenWatson, MichaelAl Aqeel, Aida I.Al-Aama, Jumana Y.Al-Mulla, FahdAlonso, SantosAretz, StefanAuerbach, Arleen D.Bapat, BharatiBernstein, Inge T.Bhak, Jong HwaBleoo, Stacey L.Bloecker, HelmutBrenner, Steven E.Burn, JohnBustamante, MarionaCalone, RitaCambon-Thomsen, AnneCargill, MicheleCarrera, PaolaCavedon, LawrenceCho, Yoon ShinChung, Yeun-JunClaustres, MireilleCutting, GarryDalgleish, Raymondden Dunnen, Johan T.Diaz, CarlosDobrowolski, Stevendos Santos, M. Rosario N.Ekong, RosemaryFlanagan, Simon B.Flicek, PaulFurukawa, YoichiGenuardi, MaurizioGhang, HoGolubenko, Maria V.Greenblatt, Marc S.Hamosh, AdaHancock, John M.Hardison, RossHarrison, Terence M.Hoffmann, RobertHoraitis, RaniaHoward, Heather J.Barash, Carol IsaacsonIzagirre, NeskutsJung, JongsunKojima, ToshioLaradi, SandrineLee, Yeon-SuLee, Jong-YoungGil-da-Silva-Lopes, Vera L.Macrae, Finlay A.Maglott, DonnaMarafie, Makia J.Marsh, Steven G. E.Matsubara, YoichiMessiaen, Ludwine M.Moeslein, GabrielaNetea, Mihai G.Norton, Melissa L.Oefner, Peter J.Oetting, William S.O'Leary, James C.Oller de Ramirez, Ana MariaPaalman, Mark H.Parboosingh, JillianPatrinos, George P.Perozzi, GiudittaPhillips, Ian R.Povey, SuePrasad, SuyashQi, MingQuin, David J.Ramesar, Rajkumar S.Richards, C. SueSavige, JudithScheible, Dagmar G.Scott, Rodney J.Seminara, DanielaShephard, Elizabeth A.Sijmons, Rolf H.Smith, Timothy D.Sobrido, Maria-JesusTanaka, ToshihiroTavtigian, Sean V.Taylor, Graham R.Teague, JonToepel, ThoralfUllman-Cullere, MollieUtsunomiya, Jojivan Kranen, Henk J.Vihinen, MaunoWebb, ElizabethWeber, Thomas K.Yeager, MeredithYeom, Young I.Yim, Seon-HeeYoo, Hyang-Sook
Keywords
INTERNATIONAL HAPMAP PROJECT; LOCUS-SPECIFIC DATABASES; HUMAN GENOME; DEVELOPING-COUNTRIES; GLOBAL HEALTH; GENETIC-VARIATION; MISSENSE VARIANTS; MUTATION DATABASE; GRAND CHALLENGES; HUMAN-DISEASE
Issue Date
2009-04
Publisher
WILEY-BLACKWELL
Citation
HUMAN MUTATION, v.30, no.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. 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
URI
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DOI
10.1002/humu.20972
ISSN
1059-7794
Appears in Collections:
BME_Journal Papers
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