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From DNA to diagnosis
Date:3/18/2014

nomes, but also tumor genomes and "metagenomes" from infectious disease agents such as viruses and bacteria.

Knowing the DNA sequence of a cancer patient's tumor, for example, may reveal a personalized treatment plan for combatting the disease. Pinpointing tiny sequence variations in personal genomes will expose inherited diseases that, in some cases, may be life-threatening.

Together with Omicia, Inc., the USTAR Center for Genetic Discovery is building a web accessible informatics platform, called Opal, to distill genome data to clinically relevant findings. Opal is powered by VAAST, a proven disease gene finder algorithm invented by Yandell. Launched less than two years ago, VAAST has successfully identified causes of inherited diseases, including hard-to-diagnose rare diseases, and is used at 251 institutions worldwide.

"We are building the information highway that is necessary for taking genetic DNA information from the sequencing machine all the way to clinical use," said Marth.

The same features that make VAAST a robust genome interpretation tool make it a powerful engine for disease discovery. The center is collaborating with Utah Genome Project investigators, who leverage an enormous collection of genealogical and health records dating from pioneer times, to search for the genetic causes of cancers, immune, lung, heart, and other inherited diseases.

"Once we identify the genetic causes of disease, we can work towards better diagnoses, more effective treatment, and sometimes curing those diseases," said said Lynn Jorde, Ph.D., Executive Director of the Utah Genome Project.

The USTAR Center for Genetic Discovery eventually anticipates commercializing its full suite of software tools, and becoming a top genomic health data service provider for medical centers nationwide.


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Contact: Julie Kiefer
jkiefer@neuro.utah.edu
801-597-4258
University of Utah Health Sciences
Source:Eurekalert  

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