Research by the University of Utah and Omica, Inc. reveal a new computational biology software tool that could dramatically change the way genetic diseases are detected. Published in Genome Research, the Variant Annotation, Analysis and Selection Tool (VAAST) can identify disease causing mutations in individual human genomes.
VAAST will help increase the early detection of cancer and childhood diseases because it will give individuals greater access to their personal genome information.
The Genome Research paper shows that VAAST uses a statically robust method to provide highly accurate results. VAAST goes a long way to solving the problem of sifting through the millions of variants in a personal genome sequence with improved statistical power, scope of use, and flexibility in comparison to existing methods.
In a paper published in the American Journal of Human Genetics, Gholson Lyon, M.D., Ph.D. and colleagues, report the use of VAAST to identify mutations responsible for a childhood disease, tentatively called Ogden Syndrome which is characterized by aged appearance, cardiac arrhythmias, and craniofacial abnormalities. The team used VAAST to quickly and accurately identify the disease-causing mutation.
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