Planning the human variome project: The Spain report

Cited 41 time in scopus
Metadata Downloads
Title
Planning the human variome project: The Spain report
Author(s)
J Kaput; R G H Cotton; L Hardman; M Watson; Jong Hwa Park; Hoyoung GhangYoung Il Yeom; Hyang Sook Yoo
Bibliographic Citation
Human Mutation, vol. 30, no. 4, pp. 496-510
Publication Year
2009
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., micro-arrays) 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.
Keyword
databasegenetic diseasegenomemutationvariome
ISSN
1059-7794
Publisher
Wiley
DOI
http://dx.doi.org/10.1002/humu.20972
Type
Article
Appears in Collections:
Ochang Branch Institute > Division of Bioinfrastructure > Laboratory Animal Resource Center > 1. Journal Articles
Division of Biomedical Research > Personalized Genomic Medicine Research Center > 1. Journal Articles
Files in This Item:
  • There are no files associated with this item.


Items in OpenAccess@KRIBB are protected by copyright, with all rights reserved, unless otherwise indicated.