Cartagenia Summer Webinars: Diagnostic use cases on Cartagenia Bench Lab
How to analyze a family trio of exomes in Cartagenia Bench Lab?
Thursday June 9th 2016, 11am EDT (5pm CET)
In this webinar we will illustrate Cartagenia Bench Lab's capabilities through a demonstration of a family analysis containing a proband with an inherited mitochondrial disease and the unaffected parents and sibling. Analyzing probands within the context of related family members is important for labs doing routine genetic testing on rare disease. Interpreting molecular variants in relation to unaffected or similarly affected relatives can provide new insights into the clinically significant variants. Cartagenia Bench Lab is a variant assessment and reporting platform designed for clinical genetics and molecular pathology labs. Bench supports combined analyses of NGS results from multiple contributing patients in a single, seamless workflow, all while reducing turnaround time.
This 30-minute webinar will be hosted by Elizabeth Ewen, PhD, Field Application Scientist, Agilent CAD