Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/917003

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Title
Planning the Human Variome Project: the Spain report
Author/Creator
Kaput, Jim;  Cotton, Richard G. H.;  Bapat, Bharati;  Bernstein, Inge T.;  Bhak, Jong;  Bleoo, Stacey L.;  Blöcker, Helmut;  Brenner, Steven E.;  Burn, John;  Bustamante, Mariona;  Calzone, Rita;  Scott, Rodney J.;  Hardman, Lauren;  Watson, Michael;  Aqeel, Aida I. Al;  Al-Aama, Jumana Y.;  Al-Mulla, Fahd;  Alonso, Santos;  Aretz, Stefan;  Auerbach, Arleen D.
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
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.
Relation
Human Mutation Vol. 30, Issue 4, p. 496-510
Publisher Link
http://dx.doi.org/10.1002/humu.20972
Date
2009
Publisher
John Wiley
Keyword(s)
variome;  genome;  mutation;  database;  genetic disease
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/917003
Identifier
ISSN:1059-7794
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Subject
"Human Mutation"
 
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