December 10, 2013

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Article

U of U's Utah Genome Project Agrees to Use Opal Platform

Press Release

December 10, 2013

Salt Lake City — Omicia, Inc., has partnered with the University of Utah’s Utah Genome Project. Under a two-year licensing agreement with Omicia, the University will use and advance Opal, the company’s whole genome analysis platform for research and clinical applications. The agreement enables the University’s researchers and clinicians to use Opal on a cost-per-genome basis. Through the partnership, all researchers and clinicians at the University of Utah will have access to the Opal platform.

The partnership is a centerpiece of Utah Genome Project’s initiative to speed clinical diagnoses for rare diseases. Stephen L. Guthery, professor of pediatrics and human genetics at the University of Utah, regularly encounters children with undiagnosed, life-threatening, immune-mediated disorders, particularly involving the liver and gastrointestinal tract.

“Characterizing genetic variants in families with inherited immune-mediated disorders will help end diagnostic odysseys and provide valuable insights into treatment options where currently there are none,” Guthery said. “Genome sequencing in combination with the Omicia Opal system for interpretation and decision support can benefit patients suffering with a range of undiagnosed illnesses, from autoimmune and metabolic disorders to kidney, cardiovascular and neurological disorders.”

The Utah Genome Project has already used Opal in numerous successes identifying genetic causes of disease.

The Utah Genome Project strategy relies on extensive pedigrees combined with genome sequencing and advanced bioinformatics. Mark Yandell, Ph.D., professor of human genetics and biomedical informatics at the University of Utah, explains, “Any sequencing experiment will identify thousands of potential disease-causing genomic variants. The bottleneck is ranking these variants based on what is known about human genomic variation. Through the Opal platform our researchers have direct access to tools, such as VAAST, and this partnership will enable us to continue developing innovative tools and algorithms that Omicia can then offer the wider genomic medicine community.”

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