2.50
Hdl Handle:
http://hdl.handle.net/10033/306271
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; 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; de Ramirez, Ana Maria Oller; 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, 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
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.
Affiliation:
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA. James.kaput@fda.hhs.gov
Citation:
Planning the human variome project: the Spain report. 2009, 30 (4):496-510 Hum. Mutat.
Journal:
Human mutation
Issue Date:
Apr-2009
URI:
http://hdl.handle.net/10033/306271
DOI:
10.1002/humu.20972
PubMed ID:
19306394
Type:
Article
Language:
en
ISSN:
1098-1004
Appears in Collections:
publications of the research group genomeanalytics (GMAK)

Full metadata record

DC FieldValue Language
dc.contributor.authorKaput, Jimen
dc.contributor.authorCotton, Richard G Hen
dc.contributor.authorHardman, Laurenen
dc.contributor.authorWatson, Michaelen
dc.contributor.authorAl Aqeel, Aida Ien
dc.contributor.authorAl-Aama, Jumana Yen
dc.contributor.authorAl-Mulla, Fahden
dc.contributor.authorAlonso, Santosen
dc.contributor.authorAretz, Stefanen
dc.contributor.authorAuerbach, Arleen Den
dc.contributor.authorBapat, Bharatien
dc.contributor.authorBernstein, Inge Ten
dc.contributor.authorBhak, Jongen
dc.contributor.authorBleoo, Stacey Len
dc.contributor.authorBlöcker, Helmuten
dc.contributor.authorBrenner, Steven Een
dc.contributor.authorBurn, Johnen
dc.contributor.authorBustamante, Marionaen
dc.contributor.authorCalzone, Ritaen
dc.contributor.authorCambon-Thomsen, Anneen
dc.contributor.authorCargill, Micheleen
dc.contributor.authorCarrera, Paolaen
dc.contributor.authorCavedon, Lawrenceen
dc.contributor.authorCho, Yoon Shinen
dc.contributor.authorChung, Yeun-Junen
dc.contributor.authorClaustres, Mireilleen
dc.contributor.authorCutting, Garryen
dc.contributor.authorDalgleish, Raymonden
dc.contributor.authorden Dunnen, Johan Ten
dc.contributor.authorDíaz, Carlosen
dc.contributor.authorDobrowolski, Stevenen
dc.contributor.authordos Santos, M Rosário Nen
dc.contributor.authorEkong, Rosemaryen
dc.contributor.authorFlanagan, Simon Ben
dc.contributor.authorFlicek, Paulen
dc.contributor.authorFurukawa, Yoichien
dc.contributor.authorGenuardi, Maurizioen
dc.contributor.authorGhang, Hoen
dc.contributor.authorGolubenko, Maria Ven
dc.contributor.authorGreenblatt, Marc Sen
dc.contributor.authorHamosh, Adaen
dc.contributor.authorHancock, John Men
dc.contributor.authorHardison, Rossen
dc.contributor.authorHarrison, Terence Men
dc.contributor.authorHoffmann, Roberten
dc.contributor.authorHoraitis, Raniaen
dc.contributor.authorHoward, Heather Jen
dc.contributor.authorBarash, Carol Isaacsonen
dc.contributor.authorIzagirre, Neskutsen
dc.contributor.authorJung, Jongsunen
dc.contributor.authorKojima, Toshioen
dc.contributor.authorLaradi, Sandrineen
dc.contributor.authorLee, Yeon-Suen
dc.contributor.authorLee, Jong-Youngen
dc.contributor.authorGil-da-Silva-Lopes, Vera Len
dc.contributor.authorMacrae, Finlay Aen
dc.contributor.authorMaglott, Donnaen
dc.contributor.authorMarafie, Makia Jen
dc.contributor.authorMarsh, Steven G Een
dc.contributor.authorMatsubara, Yoichien
dc.contributor.authorMessiaen, Ludwine Men
dc.contributor.authorMöslein, Gabrielaen
dc.contributor.authorNetea, Mihai Gen
dc.contributor.authorNorton, Melissa Len
dc.contributor.authorOefner, Peter Jen
dc.contributor.authorOetting, William Sen
dc.contributor.authorO'Leary, James Cen
dc.contributor.authorde Ramirez, Ana Maria Olleren
dc.contributor.authorPaalman, Mark Hen
dc.contributor.authorParboosingh, Jillianen
dc.contributor.authorPatrinos, George Pen
dc.contributor.authorPerozzi, Giudittaen
dc.contributor.authorPhillips, Ian Ren
dc.contributor.authorPovey, Sueen
dc.contributor.authorPrasad, Suyashen
dc.contributor.authorQi, Mingen
dc.contributor.authorQuin, David Jen
dc.contributor.authorRamesar, Rajkumar Sen
dc.contributor.authorRichards, C Sueen
dc.contributor.authorSavige, Judithen
dc.contributor.authorScheible, Dagmar Gen
dc.contributor.authorScott, Rodney Jen
dc.contributor.authorSeminara, Danielaen
dc.contributor.authorShephard, Elizabeth Aen
dc.contributor.authorSijmons, Rolf Hen
dc.contributor.authorSmith, Timothy Den
dc.contributor.authorSobrido, María-Jesúsen
dc.contributor.authorTanaka, Toshihiroen
dc.contributor.authorTavtigian, Sean Ven
dc.contributor.authorTaylor, Graham Ren
dc.contributor.authorTeague, Jonen
dc.contributor.authorTöpel, Thoralfen
dc.contributor.authorUllman-Cullere, Mollieen
dc.contributor.authorUtsunomiya, Jojien
dc.contributor.authorvan Kranen, Henk Jen
dc.contributor.authorVihinen, Maunoen
dc.contributor.authorWebb, Elizabethen
dc.contributor.authorWeber, Thomas Ken
dc.contributor.authorYeager, Meredithen
dc.contributor.authorYeom, Young Ien
dc.contributor.authorYim, Seon-Heeen
dc.contributor.authorYoo, Hyang-Sooken
dc.date.accessioned2013-12-04T13:55:25Z-
dc.date.available2013-12-04T13:55:25Z-
dc.date.issued2009-04-
dc.identifier.citationPlanning the human variome project: the Spain report. 2009, 30 (4):496-510 Hum. Mutat.en
dc.identifier.issn1098-1004-
dc.identifier.pmid19306394-
dc.identifier.doi10.1002/humu.20972-
dc.identifier.urihttp://hdl.handle.net/10033/306271-
dc.description.abstractThe 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.en
dc.language.isoenen
dc.rightsArchived with thanks to Human mutationen
dc.subject.meshComputational Biologyen
dc.subject.meshDatabases, Geneticen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenetic Variationen
dc.subject.meshGenome, Humanen
dc.subject.meshGenotypeen
dc.subject.meshHumansen
dc.subject.meshInformation Disseminationen
dc.subject.meshMutationen
dc.subject.meshPhenotypeen
dc.subject.meshPolymorphism, Geneticen
dc.subject.meshSpainen
dc.titlePlanning the human variome project: the Spain report.en
dc.typeArticleen
dc.contributor.departmentDivision of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA. James.kaput@fda.hhs.goven
dc.identifier.journalHuman mutationen

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