Navigation Links
Real Time Genomics® Announces Platform Launch, Expanding Commercial Operations
Date:2/20/2013

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.

Read the full story at http://www.prweb.com/releases/2013/2/prweb10450022.htm.


'/>"/>
Source: PRWeb
Copyright©2012 Vocus, Inc.
All rights reserved

Related biology technology :

1. Store-A-Tooth™ Stem Cell Banking Announces Appointment of Dedicated Sales Representative in New England
2. Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation
3. Adeptia Announces 75% Revenue Increase for 2012 Calendar Year
4. Japan Bioinformatics Announces the Release of their Simbiot® Time Course Analysis ‘How-To’ Guide
5. How To Get Rid of Bed Bugs Complete Extermination Guidelines Released By My Cleaning Products, Company Announces It's Also Giving Out Samples of Its Bed Bug Spray
6. AbbVie Declares Dividend and Announces Share Repurchase Program
7. Cepheid Announces Board of Directors Changes
8. Cellular Biomedicine Group Announces ISO 9001:2008 Certification and ISO-14644 Cleanroom Certification
9. Ingenuity Systems Announces Compliance with HIPAA
10. Rigaku Announces Method for Quantitative Elemental Analysis of Low-Alloy Steel with the Rigaku ZSX Primus III+ WDXRF Spectrometer
11. Chemir Announces New Custom Synthesis Laboratory
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/29/2016)... ... April 29, 2016 , ... During a two ... into a viable company, CereScan’s CEO, John Kelley, joined other Denver business leaders ... and mentor in the Denver area business community, shared his top fundamental learnings ...
(Date:4/29/2016)... ... April 29, 2016 , ... Intelligent Implant Systems announced ... FDA via 510(k) for sale in the United States. These components expand the ... fusions. With one-level sales beginning in October of 2015, the company has seen ...
(Date:4/28/2016)... 2016 The report "Cryocooler Market ... Service (Technical Support, Product Repairs & Refurbishment, Preventive Maintenance, ... to 2022", published by MarketsandMarkets, the global market is ... at a CAGR of 7.29% between 2016 and 2022. ... 94 Figures spread through 159 Pages and in-depth TOC ...
(Date:4/28/2016)... ... April 28, 2016 , ... ... for Connecticut's innovative, growing companies, today announced the launch of VentureClash , ... (fintech) companies. , “VentureClash looks to attract the best early-stage companies ...
Breaking Biology Technology:
(Date:3/22/2016)... 2016 According to ... for Consumer Industry by Type (Image, Motion, Pressure, ... & IT, Entertainment, Home Appliances, & Wearable ... 2022", published by MarketsandMarkets, the market for ... USD 26.76 Billion by 2022, at a ...
(Date:3/15/2016)... 15, 2016 --> ... Transparency Market Research "Digital Door Lock Systems Market - Global ... 2023," the global digital door lock systems market in terms ... and is forecast to grow at a CAGR of 31.8% ... and medium enterprises (MSMEs) across the world and high industrial ...
(Date:3/11/2016)... --> --> ... Recognition Market by Technology (Pattern Recognition), by Component (Hardware, ... Type (On-Premises and Cloud), by Industry Vertical and by ... the global market is expected to grow from USD ... 2020, at a CAGR of 19.1%. , ...
Breaking Biology News(10 mins):