Planning the Human Variome Project: The Spain Report

被引：36

作者：

Kaput, Jim ^{[1
]}

Cotton, Richard G. H. ^{[2
,3
]}

Hardman, Lauren ^{[2
]}

Watson, Michael ^{[4
]}

Al Aqeel, Aida I. ^{[5
]}

Al-Aama, Jumana Y. ^{[6
]}

Al-Mulla, Fahd ^{[7
]}

Alonso, Santos ^{[8
]}

Aretz, Stefan ^{[9
]}

Auerbach, Arleen D. ^{[10
]}

Bapat, Bharati ^{[11
]}

Bernstein, Inge T. ^{[12
]}

Bhak, Jong ^{[13
]}

Bleoo, Stacey L. ^{[14
]}

Bloecker, Helmut ^{[15
]}

Brenner, Steven E. ^{[16
]}

Burn, John

Bustamante, Mariona ^{[17
,18
]}

Calone, Rita ^{[19
]}

Cambon-Thomsen, Anne ^{[21
]}

Cargill, Michele ^{[20
]}

Carrera, Paola ^{[22
]}

Cavedon, Lawrence ^{[23
]}

Cho, Yoon Shin ^{[24
]}

Chung, Yeun-Jun ^{[25
]}

Claustres, Mireille ^{[26
,27
]}

Cutting, Garry ^{[28
]}

Dalgleish, Raymond ^{[29
]}

den Dunnen, Johan T. ^{[30
]}

Diaz, Carlos ^{[31
]}

Dobrowolski, Steven ^{[32
]}

dos Santos, M. Rosario N.

Ekong, Rosemary ^{[33
]}

Flanagan, Simon B. ^{[34
]}

Flicek, Paul ^{[35
]}

Furukawa, Yoichi ^{[36
]}

Genuardi, Maurizio ^{[37
]}

Ghang, Ho ^{[13
]}

Golubenko, Maria V. ^{[38
]}

Greenblatt, Marc S. ^{[39
]}

Hamosh, Ada ^{[28
,40
]}

Hancock, John M. ^{[41
]}

Hardison, Ross ^{[42
]}

Harrison, Terence M. ^{[43
,44
]}

Hoffmann, Robert ^{[45
]}

Horaitis, Rania ^{[2
]}

Howard, Heather J. ^{[2
]}

Barash, Carol Isaacson ^{[46
]}

Izagirre, Neskuts

Jung, Jongsun ^{[24
]}

机构：

[1] US FDA, Natl Ctr Toxicol Res, Div Personalized Nutr & Med, Jefferson, AR 72079 USA

[2] Genom Disorders Res Ctr, Melbourne, Vic, Australia

[3] Univ Melbourne, Fac Med Dent & Hlth Sci, Parkville, Vic 3052, Australia

[4] Amer Coll Med Genet, Bethesda, MD USA

[5] Riyadh Mil Hosp, Dept Paediat, Riyadh, Saudi Arabia

[6] King Abdulaziz Univ, Princess Al Jawhara Ctr Hereditary Disorders, Jeddah, Saudi Arabia

[7] Kuwait Univ, Mol Pathol Unit, Kuwait, Kuwait

[8] Univ Basque Country, Dept Genet Phys Anthropol & Anim Physiol, Madrid, Spain

[9] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

[10] Rockefeller Univ, Lab Human Genet & Hematol, New York, NY 10021 USA

[11] Univ Toronto, Mt Sinai Hosp, Lab Med & Pathobiol, Toronto, ON M5S 1A1, Canada

[12] Hvidovre Univ Hosp, Copenhagen, Denmark

[13] KRIBB, Korean Bioinformat Ctr, Chungnam, South Korea

[14] Univ Alberta, Edmonton, AB, Canada

[15] HZI Helmholtz Ctr Infect Res, Braunschweig, Germany

[16] Univ Calif Berkeley, Berkeley, CA 94720 USA

[17] Ctr Genom Regulat, Barcelona, Spain

[18] Ctr Network Biomed Res Epidemiol & Publ Hlth, Barcelona, Spain

[19] Genet Serv ASL, Naples, Italy

[20] Navigenics, Human Genet, Redwood Shores, CA USA

[21] Fac Med Toulouse, INSERM, F-31073 Toulouse, France

[22] Ist Sci San Raffaele, Unit Genom Diagnost Human Dis & Laboraf, I-20132 Milan, Italy

[23] NICTA, Victorian Res Lab, Parkville, Vic, Australia

[24] Korean Natl Inst Hlth, Div Struct & Funct Genom, Seoul, South Korea

[25] Catholic Univ Korea, Dept Microbiol & Genom, Seoul, South Korea

[26] Univ Montpellier I, Fac Med, Montpellier, France

[27] CHU Montpellier, Genet Mol Lab, Montpellier, France

[28] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD USA

[29] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

[30] Leiden Univ, Med Ctr, NL-2300 RA Leiden, Netherlands

[31] Fundacio IMIM, European Project Management & Coordinat Off, Barcelona, Spain

[32] Idaho Technol Inc, Res & Dev, Salt Lake City, UT USA

[33] UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England

[34] Royal Brisbane & Womens Hosp, Herston, Qld, Australia

[35] EMBL European Bioinformat Inst, Hinxton, England

[36] Univ Tokyo, Inst Med Sci, Div Clin Genom Res, Tokyo 1138654, Japan

[37] Univ Florence, I-50121 Florence, Italy

[38] Inst Med Genet, Tomsk, Russia

[39] Univ Vermont, Coll Med, Burlington, VT USA

[40] Johns Hopkins Univ, OMIM, Baltimore, MD USA

[41] MRC Harwell, Bioinformat Grp, Harwell, Berks, England

[42] Penn State Univ, University Pk, PA 16802 USA

[43] Royal Melbourne Hosp, Hlth Sci Lib, Parkville, Vic 3050, Australia

[44] Royal Melbourne Hosp, Victorian Mental Hlth Lib, Parkville, Vic 3050, Australia

[45] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA

[46] Eth & Policy Consulting Inc, Genet, Boston, MA USA

[47] RIKEN, Adv Computat Sci Dept, Kanagawa, Japan

[48] Estab Francais Du Sang, Auvergne Loire, France

[49] Natl Canc Ctr, Funct Genom Branch, Goyang, South Korea

[50] Univ Estadual Campinas, Dept Med Genet, Campinas, Brazil

来源：

HUMAN MUTATION | 2009年 / 30卷 / 04期

关键词：

variome; genome; mutation; database; genetic disease; GLOBAL HEALTH; POPULATION DIFFERENTIATION; MISSENSE VARIANTS; MUTATION DATABASE; GENETIC-VARIATION; GRAND CHALLENGES; HUMAN GENOME; SEQUENCE; DISEASE; DNA;

D O I：

10.1002/humu.20972

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：496 / 510

页数：15

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