March 17, 2013, State College PA SoftGenetics announced the availability of its new Geneticist Assistant NGS Interpretative workbench, a web-based tool for the control, visualization, interpretation and analysis of next generation sequencing data targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer. Geneticist Assistant is the result of a close developmental collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic, Rochester, MN.
Geneticist Assistant is designed to integrate multiple data sources into an efficient workflow for laboratories utilizing Next Generation Sequencing technology. The workbench comes with an array of tools to speed NGS workflows from quality control through laboratory reporting with accessibility either through encrypted internet protocol by multiple collaborating institutions or a local institutional network or through a local computer. The GA Workbench first ascertains if the NGS sequencing has met user set quality parameters; logs all identified variants by individual, sample and disease panel; builds a historical knowledge base for geneticists to make pathogenic calls on unique variants; provides pathogenic prediction scores from multiple databases; links to confirmatory articles such as PubMed and other resources.
Geneticist Assistant automatically creates action lists to continue the NGS workflow. The action lists can contain regions with insufficient coverage that require re-sequencing or confirmation by Sanger Sequencing, or unique variants that require group review.
“Next generation sequencing produces so much data that laboratory professionals and clinical providers need tools like the NGS Interpretative Workbench to help them maximize the use of this valuable information,” says Matthew Ferber, Ph.D., a co-developer of the Workbench. “What makes this product unique is its ability to interpret sequence data from any NGS platform and produce a consistent report for providers.”
SoftGenetics will be premiering and demonstrating Geneticist Assistant at the 2013 American College of Medical Genetics and Genomics Annual Clinical Genetics meeting March 20-23, 2013.
The company offers 30-day trials and no cost web-based training on its genetic analysis software packages Interested parties may request the software on the company website: www.softgenetics.com or via email: [email protected].
Contact Information:
John Fosnacht
SoftGenetics LLC
The Oakwood Centre
Suite 350
State College PA 16803