NCBI Develops Database of Genomic Structural Variations

The National Center for Biotechnology Information has developed a new tool to help scientists understand how differences in DNA sequences contribute to human health and disease.

The Database of Genomic Structural Variation, or dbVar, will help track large-scale variations in DNA sequences discovered in healthy individuals as well as people with conditions such as autism and cancer. The database also contains comparative data on wide variety of organisms, including plants and livestock, that are important to agriculture.

The human genome is made up of approximately 3 billion base pairs of DNA arranged into 23 chromosomes. In recent years, scientists have discovered that very large stretches of the genome can be rearranged, duplicated, or deleted. Some of these variations may be associated with disorders such as Down syndrome, while others do not have apparent impact on health. dbVar is one of several tools scientists can use to understand how genomic variations play a role in disease or affect a person’s characteristics.

“An enormous volume of data is now coming from studies that investigate genetic variation,” says NCBI Director, David Lipman, MD. “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 National Library of Medicine research tools and the scientific literature.”

dbVar was officially launched in September 2010. The database is part of an international collaboration that includes the recently-launched Database of Genomic Variants archive (DGVa) at the European Bioinformatics Institute (EBI) and the Database of Genomic Variants (DGV) in Toronto.  The databases are detailed in the October 2010 issue of Nature Genetics.

Members of the dbVar team are Deanna M. Church, John Garner, Timothy Hefferon, John Lopez, and Azat Mardanov.