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October 12, 2010 [posted]

NCBI Launches the Database of Genomic Structural Variations

[Editor's Note: This is a reprint of an announcement published on the NLM Web site on September 30, 2010. To be notified of announcements like this, subscribe to NLM-Announces e-mail list.]

A new tool to aid in understanding the genetics of health and disease

The National Institutes of Health (NIH) announces the launch of a new resource, called the Database of Genomic Structural Variation, or dbVar, to help scientists understand how differences in DNA contribute to human health and disease.

The database will help track large-scale variations in DNA discovered in healthy individuals as well as those affected with disorders such as autism and cancer. Additionally, dbVar will collect data on a diverse array of organisms, including agriculturally important plants and livestock. The database was developed by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine® (NLM®) at NIH.

The human genome is made up of approximately 3 billion base pairs of DNA arranged into 46 chromosomes. In recent years, scientists have discovered that very large stretches of the genome — on the order of millions of base pairs of DNA — can be different in seemingly normal individuals. It had long been known that such large-scale genomic changes existed, but it was thought that they were rare and when present led to known disorders such as Down syndrome. It is now understood that such variations are relatively common, and while some may be associated with disorders, others do not have an apparent effect on health. Understanding how these genomic variations relate to individual characteristics and impact health is an important and active area of research.

"An enormous volume of data is now coming from studies that investigate genetic variation," said NCBI Director David Lipman, M.D. "We are excited to be playing a role in this important area of scientific inquiry by making the data widely available to scientists and integrating it with other NLM research tools and the scientific literature."

dbVar is part of an international collaboration that includes the just-launched Database of Genomic Variants archive (DGVa) at the European Bioinformatics institute (EBI) and the Database of Genomic Variants (DGV) in Toronto. The databases exchange data on a regular basis so that each can provide complete data with their own user interfaces, data analysis tools, and suites of integrated resources. The databases are described in a correspondence appearing in the October issue of Nature Genetics.

To access dbVar, visit //

NCBI Launches the Database of Genomic Structural Variations. NLM Tech Bull. 2010 Sep-Oct;(376):e10.

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