About this webcast

Recorded On: Wednesday, November 4, 2020

Presented By: Eli Sward, Ph.D., Field Application Scientist Manager

Golden Helix has been in close communication with the publishers of the ACMG guidelines and the ClinGen group to receive expert advice on how to interpret CNVs called on NGS data. These guidelines provide a robust set of rules for interpreting intragenic deletions and duplications, which is summarized into an intricate decision tree that is broken down into 80 distinct criteria. This complexity is further compounded by many important caveats, exceptions, and considerations known to many in the CNV clinical workspace but are not mentioned in the published guidelines. Fortunately, Golden Helix has spent long hours reading the guidelines, watching the webinars, reading the supplementary material, and working with collaborators to develop a comprehensive workflow to guide you through your clinical interpretation of CNVs. Herein, we are excited to cover more details into this novel ACMG CNV guideline interpretation workflow and demonstrate how intuitive this feature can be for your clinical pipeline. Specifically, we will cover:

• The intricacies of the ACMG CNV Sample auto classifier
• Unique annotations and algorithms
• Adjustable metrics and parameters in the VSClinical ACMG interface
• Rendering clinical reports