A New Personalized Genomics Tool, VAAST, Identifies Mysterious Illness
The online news section of the journal Nature featured Dr. Gholson Lyon, a medical geneticist and psychiatrist at the Center for Applied Genomics at The Children's Hospital of Philadelphia, and his discovery of a genetic mutation in a previously unrecognized rare disease tentatively named Ogden Syndrome. Lyon was able to make use of family histories and the new Variant Annotation, Analysis & Search Tool (VAAST). A next-generation type of software for genetic research, VAAST, enabled Lyon and his colleagues to quickly discover the disease-causing mutation by analyzing a handful of DNA samples, as opposed to earlier methods that required much more genetic data and sequencing time in order to draw similar conclusions. Read the Nature News article by Brendan Maher to learn more about VAAST and the future of personalized genomics.