San Francisco, California (PRWEB) February 20, 2013
February 20, 2013 -- Real Time Genomics, Inc., today announced the introduction of its genome analytics platform to enable the rapid, accurate interpretation of genomes in the study of early childhood disease. The platform will provide biomedical and clinical researchers for the first time the ability to accurately and robustly detect a type of variant prevalent in childhood disease but which has thus far impeded scientists.
Real Time Genomics used the recently published Illumina Platinum Genomes dataset, a three-generation pedigree of 17 individuals sequenced at high coverage, to demonstrate and validate the platform’s ability to accurately identify disease-causing variants leveraging data from multiple genomes in a family. The RTG platform significantly reduces the number of variants that violate Mendelian segregation while accurately reporting de novo variants, which are considered responsible for about half of all early neurodevelopmental childhood disorders and high-penetrant neonatal diseases. Initial results of the analysis will be presented by Francisco De La Vega, VP of Genome Sciences, at the Advances in Genome Biology & Technology (AGBT) conference in Marco Island, FL. Detailed results of the analysis will be subsequently presented at the ACMG Annual Clinical Genetics Meeting in March, 2013 in Phoenix, AZ.
As a result of this validation and the successful analysis of hundreds of whole genome sequences that have been run as part of its Early Access program, the company decided to make its Genomics platform broadly available to the marketplace.
“Our ability to accurately detect de novo variants is an important R&D milestone and confirmed to us and our collaborators that the platform was ready for use in human disease applications,” said Steve Lombardi, CEO of Real Time Genomics. “We believe that childhood disease is the optimum early application of our technology. Our collaborators and Early Access customers have signed on because our combination of accuracy and speed is of great value to researchers looking to discover disease-associated variants and to the medical geneticists who interpret them for clinical use. Our technology roadmap will further leverage this value as we focus on continued improvements to accuracy and speed of analysis, allowing our platform to impact other critical disease applications.”
The Real Time Genomics platform takes raw sequence data, aligns it to a reference genome and accurately detects variants. The platform is compatible with data from a number of sequencing platforms, including Illumina, Ion Torrent, 454, and PacBio. In the case of family and trio studies, the platform simultaneously analyzes the genomic data from the related individuals within a proprietary Bayesian algorithmic framework that uses the rules of genetics (Mendel’s laws) to accurately identify variants across the individuals analyzed. The result is a report that includes single nucleotide and multiple nucleotide variants, small insertions and deletions, and structural variants. The platform can analyze whole genomes, exomes and targeted sequence regions in an order-of-magnitude less time than alternative open source methods. The platform can be imbedded locally into existing infrastructure, accessed on-demand in Amazon’s public cloud, or offered as a professional service by staff scientists. The company announced there will be both annual subscription pricing as well as pay-per-use pricing.
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 genomic data. 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.