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Gene database to aid disease research

Jun. 19, 2012, 9:00 AM


Next generation sequencing (NGS) has dramatically accelerated the discovery of disease-associated genetic variants. Also known as massively parallel sequencing, this technological tour de force can rapidly “read” a sequence of DNA bases (the “letters” in our genomes) in parallel, making genome sequencing feasible in the research lab.

Vanderbilt researchers have developed a “catalog” of human NGS data that they believe will boost the ability of this powerful new technology to uncover the genetic roots of disease and enable the ultimate realization of personalized medicine. In the June issue of Human Mutation, Junfeng Xia, Zhongming Zhao, associate professor of Biomedical Informatics, and colleagues report what they believe to be the first online resource for published NGS studies that focus on human traits and diseases, particularly cancer.

The continually updated database makes important information in the field easily accessible, the researchers explain. Systematically cataloging NGS studies provides an opportunity to examine the potential impact of genetic variants on disease.

The database is available online at

The study was supported by the American Association for Cancer Research and by the National Institutes of Health, through a core grant to the Vanderbilt-Ingram Cancer Center (CA068485) from the National Cancer Institute.

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