The age of clinical genomics is upon us and integrating legacy clinical systems with newer genetic testing workflows is a big data challenge. Genetic testing platforms are abundant, so choosing the right fit can also be challenging. Platforms vary in approach to fundamental problems such as genetic variant annotation, prioritization and reporting and also vary in the level of regulatory support provided. Many platforms are expensive and closed, and customization is limited by the proprietary systems on which they are built.
To meet these and other challenges specific to clinical and research studies, scientists at UNC-Chapel Hill and RENCI have developed a comprehensive, open source system called CDSS. They are using CDSS to manage data from nearly a thousand medical genetics patients. CDSS supports the entire clinical workflow, from sample collection to report, including support for patient scheduling, analysis monitoring, and system auditing. CDSS also integrates with high performance computing systems for genomic analysis of sequenced human variation. In this webinar, we will touch on various platforms available for genetic analysis and also introduce the CDSS framework.