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 clin
Copyright©2012 Vocus, Inc.
All rights reserved