Document Details
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Document Type |
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Article In Journal |
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Document Title |
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Initiating a Human Variome Project Country Node انشاء فروع محلية لمشروع الفاريوم العالمي |
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Subject |
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Human Variome Project |
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Document Language |
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English |
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Abstract |
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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. |
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ISSN |
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1098-1004 |
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Journal Name |
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Human Mutation |
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Volume |
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32 |
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Issue Number |
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5 |
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Publishing Year |
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1432 AH
2011 AD |
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Article Type |
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Article |
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Added Date |
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Tuesday, May 31, 2011 |
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Researchers
| جمانة الأعمى | Al-Aama, Jumana | Researcher | Doctorate | |
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