OAKLAND, Calif. & SALT LAKE CITY--(BUSINESS WIRE)--Omicia, Inc., has announced a partnership 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, M.D., M.S., 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. Guthery said, “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. 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, which harnesses the power of Utah’s large families to discover new disease-causing gene variants through genome sequencing, has already used Opal in numerous successes identifying genetic causes of disease.
“We are very pleased to formally enter into this partnership with the University of Utah, one of the premier institutions for human genetics with a long history of discovering novel disease genes and developing innovative treatment solutions for idiopathic diseases,” says Martin Reese, Ph.D., co-founder and chief scientific officer of Omicia.
“Through Opal we are combining research tools – including the widely used gene-finder tool, VAAST – into a robust end-user friendly clinician support system for genomics,” Reese said. The tools have been co-developed and published over a longstanding collaboration with the University of Utah, and supported by various NIH awards. “Opal enables investigators to drive their own undiagnosed patient analysis. Clinicians no longer need to rely on software engineers and bioinformatics graduate students for genome analysis,” Reese added.
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.”
The ease, speed, and flexibility of analyzing genomes with Opal is winning over those who use the tool. “With one click, I can upload a variant call file into Opal and walk away,” said Karl Voelkerding, M.D., professor of pathology at the University of Utah and co-director of the Utah Genome Project. “When I come back, all the annotated variants are there.”
Opal saves time, so that clinicians can focus on correlating prioritized mutational candidates with the patient’s phenotype rather than wading through cumbersome file formats. “I appreciate the speed with which I can ask specific questions with Opal, such as: Does my patient’s genome have variants in known genes for a particular disease? Are those variants predicted to alter protein function?” said Voelkerding. “I ask the questions, and the program returns clear answers, such as: In this patient, there are two variants in gene x, which are likely to be deleterious.”
Guthery emphasizes the power of being able to share data within Opal: “Patients with similar phenotypes but at different medical centers can be analyzed together, substantially improving the probability of identifying disease-causing genes.”
The University of Utah - Omicia partnership for genome interpretation enables clinicians to find genetic clues to both rare and common illnesses. Importantly, the partnership also enables bioinformaticists to iteratively develop faster, more accurate genome search tools based on real-world clinical cases. “To my knowledge, no other academic and corporate partnership can boast such an innovative and robust analysis pipeline for genomes,” said Yandell, “and we are just at the beginning.”
About the Utah Genome Project
The Utah Genome Project is a large-scale, genome sequencing and analysis initiative to discover new disease-causing genes and to develop genetic diagnostics and precision therapies that will transform healthcare. The Utah Genome Project is unique among genome initiatives because instead of studying unrelated individuals, the Utah Genome Project uncovers genetic signatures of disease and drug response in large families. The project leverages the Utah Population Database, the world’s largest repository of genealogies, public health and medical records, housed at the University of Utah Health Sciences and Huntsman Cancer Institute.
About Omicia, Inc.
Based in the San Francisco Bay Area, Omicia develops scalable and fully integrated informatics systems specifically designed to interpret human genome sequences for research and clinical applications. Omicia’s mission is to help research scientists, clinicians, and patients better understand the most relevant information from personal genome sequences and their potential medical consequences. Omicia is funded with private investments and a series of Small Business Innovation Research (SBIR) grants from the National Institutes of Health. For more information, please visit www.omicia.com.