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Document Details
Document Type
:
Article In Journal
Document Title
:
Initiating a Human Variome Project Country Node
Initiating a Human Variome Project Country Node
Subject
:
Genetics
Document Language
:
English
Abstract
:
Genetic diseases are a pressing global health problem that requires comprehensive access to basic clinical and genetic data to counter. The creation of regional and international databases that can be easily accessed by clinicians and diagnostic labs will greatly improve our ability to accurately diagnose and treat patients with genetic disorders. The Human Variome Project is currently working in conjunction with human genetics societies to achieve this by establishing systems to collect every mutation reported by a diagnostic laboratory, clinic, or research laboratory in a country and store these within a national repository, or HVP Country Node. Nodes have already been initiated in Australia, Belgium, China, Egypt, Malaysia, and Kuwait. Each is examining how to systematically collect and share genetic, clinical, and biochemical information in a countryspecific manner that is sensitive to local ethical and cultural issues. This article gathers cases of genetic data collection within countries and takes recommendations from the global community to develop a procedure for countries wishing to establish their own collection system as part of the Human Variome Project. We hope this may lead to standard practices to facilitate global collection of data and allow efficient use in clinical practice, research and therapy
ISSN
:
1098-1004
Journal Name
:
Human Mutation
Volume
:
32
Issue Number
:
5
Publishing Year
:
1432 AH
2011 AD
Article Type
:
Article
Added Date
:
Saturday, July 2, 2011
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
جمانة الأعمى
Al-Aama, Jumana
Investigator
Doctorate
Files
File Name
Type
Description
29885.pdf
pdf
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