San Francisco, California (PRWEB) August 27, 2013
Real Time Genomics, Inc., the genome analytics company, today announced the commercial introduction of its rtgSingleton™ product for the genomic analysis of individual samples, and the Beta release of its rtgPopulation™ product for case-control and cohort applications. The singleton product is designed to analyze panels, exomes or genomes on a case-by-case basis. The population product is designed to work under two distinct scenarios: (1) analyze large sample numbers simultaneously; and (2) leverage prior information obtained from a population dataset to improve outcomes in the analysis of population subsets. The two new products complement the company’s rtgFamily™ offering, which is the industry leader in genomic analysis for early childhood disease.
The company also announced an exciting new milestone for its pedigree-aware rtgFamily product. RTG’s R&D team has validated that the product can reduce the cost of sequencing trios (both parents and a child) by at least 33 percent with no tradeoff in accuracy by enabling the parents of an offspring to be sequenced at half the typical coverage and still identify recessive, compound heterozygotes, and autosomal dominant disease variants. Results from this reduced-sequencing workflow showed greater than 99.9 percent concordance between variants identified in the proband when compared to sequencing the trio at full-coverage. In addition, the reduced coverage workflow maintained RTG’s sixty-fold reduction in Mendelian inconsistent errors for the proband as compared to analyzing that individual without parental genomes. To expand this validation across a wide array of samples, the company kicked off the ‘3-for-2 Challenge’ whereby a limited number of customers can submit trio data to RTG to be analyzed at both full and reduced-parental coverage. Results will be delivered free of charge directly to customers at this year’s ASHG
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