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Document Details
Document Type
:
Article In Journal
Document Title
:
Planning the Human Variome Project: The Spain Report
تقرير مؤتمر أسبانيا: التخطيط الإستراتيجي للمشروع العالمي للفاريوم البشري
Document Language
:
English
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. Since 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 ) 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.
ISSN
:
1059-7794
Journal Name
:
Human Mutation.
Volume
:
30
Issue Number
:
4
Publishing Year
:
2009 AH
2009 AD
Article Type
:
Article
Added Date
:
Wednesday, March 3, 2010
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
جمانة الاعمى
Al-Aama, Jumana
Researcher
Doctorate
Files
File Name
Type
Description
28596.zip
zip
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