SAN FRANCISCO, California (PRWEB) April 16, 2013
Real Time Genomics, Inc., and Omicia, Inc. today announced a commercial partnership to deliver genome analytics for the clinical interpretation of genomes for childhood diseases. The partnership will integrate both companies’ platforms into a seamless workflow, resulting in a complete analytical solution that will allow research and clinical customers to rapidly identify disease-causing variants in whole genomes and exomes.
The RTG platform provides fast read alignment and accurate variant detection from raw sequence data from a number of sequencing platforms, including Illumina, Ion Torrent, and 454. The variants detected from the RTG platform, reported as a DNA variant file, are fed seamlessly into Omicia’s OpalTM engine for interpretation. The Omicia platform provides variant comparison methods such as the VAAST (Variant Annotation, Analysis and Search Tool) algorithm to score and report associated variants in a specific disease in accordance with guidelines set by the American College of Medical Genetics (ACMG). The result is a clinically actionable report that can be delivered for whole genome sequences in a matter of hours as compared to days using alternative methods.
In the case of family studies, RTG jointly analyzes the genomic data from the related individuals within a single, proprietary Bayesian algorithmic framework to provide the most accurate identification of variants in an affected individual, including de novo variants and compound heterozygotes. The Omicia platform then uses the genome information from all the individuals analyzed to rapidly make an accurate interpretation. The Real Time Genomics platform, securely delivers its output to Omicia’s hosted OpalTM platform for interpretation. The integrated workflow requires no bioinformatics expertise.
“RTG believes that partnering with Omicia will be of great value to biomedical and clinical researchers using genomics in their childhood disease efforts,” said Steve Lombardi, CEO of Real Time Genomics. “Our combined analysis and interpretation workflow can provide a simple, accurate approach to quickly identify the important variants, thereby removing an important bottleneck to the use of genomics in personalized medicine.”
“For genomic testing to reach its full potential, we must simplify the analysis of complex sequence data and integrate this information with other routine tests to help diagnose disease and guide treatment decisions,” said Mike Aicher, Omicia CEO. “Our customer’s ability to do this reliably is predicated on providing them accurate results. Partnering with Real Time Genomics delivers highly accurate variants in a timely manner, simplifying the customer experience and allowing them to focus on the biology. Through this partnership Omicia is expanding its offering towards a more complete solution to bring researchers and clinicians better tools for translating genomic data into medically actionable information.”
Both the Real Time Genomics and Omicia platforms are available as separate products today. The integrated product will be launched later in the year.
About Real Time Genomics, Inc.
Real Time Genomics (http://www.realtimegenomics.com) has a passion for genomics. The company offers software tools and applications for the extraction of unique value from genomes. Its competency lies in applying the combination of its patented core technology and deep computational expertise in algorithms to solve problems in next generation genomic analysis. Real Time Genomics is a private San Francisco based company backed by investment from Catamount Ventures, Lightspeed Venture Partners, and GeneValue Ltd.
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 http://www.omicia.com.