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Cybergenetics Quality-Based Genetic Analysis Automation Technology

(BW HealthWire)–Cybergenetics is rapidly advancing its quality-based genetic analysis technology. The TrueAllele(TM) fully automated software eliminates the data scoring bottleneck for short tandem repeat (STR) genetic and forensic data.

"Conventional manual data editing requires human review of every genotype, causing significant delay, error, expense and risk in high-throughput genotyping," says Dr. Mark Perlin, CEO of Cybergenetics. "Our computer-based TrueAllele technology performs 90% of this data review, and focuses the human review on just the 5%-10% of problematic calls. This automation greatly accelerates genetic discovery."

Cybergenetics third TrueAllele patent issued last March. US patent No. 5,876,933 has broad and deep claims that cover automated STR analysis, including quality issues such as quantitating error and genotyping accuracy. This patent, drawing on six years of unchallenged technological leadership, also covers high-throughput genotyping, genetic discovery and diagnosis, and forensic applications.

deCODE Genetics and Cybergenetics coauthored the article "Using quality measures to facilitate allele calling in high-throughput genotyping," which appeared in Genome Research in October. Says Dr. Jeff Gulcher, Vice President of Research and Development for deCODE Genetics: "It has allowed us to scale up to become the largest microsatellite genotyping facility in the world, generating almost 2 million genotypes per month. TrueAllele has led to a labor savings in editing of at least 80%, freeing up our scientists to do more creative things with their time."

TrueAllele automatically tracks and scores STR data from capillary and gel-based fluorescent DNA sequencers. The software uses rules and rankings to assess the quality of every genotype it calls. A new forensic module is specifically designed for STR profile databases. Evaluation software, with supporting data and documentation, is downloadable from TrueAllele runs on Macintosh, Windows, and UNIX computers.

Cybergenetics is a bioinformation company based in Pittsburgh, PA that develops unique computational approaches for genetic research. Cybergenetics is committed to providing effective software systems that accelerate and simplify genetic discovery.

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