SoftGenetics has launched its web-based Geneticist Assistant NGS interpretative workbench.
The system is aimed at the control, visualisation, 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 utilising 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.
It automatically creates action lists to continue the NGS workflow. These lists can contain regions with insufficient coverage that require re-sequencing or confirmation by Sanger Sequencing, or unique variants that require group review.
