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 app
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