A User’s Perspective: ACMG Guidelines for CNVs in VSClinical

About this webcast

Recorded On: Wednesday, October 14, 2020

Presented By: Darby Kammeraad, Field Application Scientist, and Nathan Fortier, PhD, Director of Research

Our last webcast introduced the newest features of VarSeq that will be included in our upcoming release. After a serious developmental effort, we are excited to announce one of these being the integration of ACMG Guidelines for CNVs!

VarSeq is not only the tertiary environment to filter through your imported SNVs and indels from any VCF file, but also includes robust and proven capabilities of CNV detection and clinical variant interpretation. With our upcoming release, users will be able to leverage an automated filter that is paired with the CNV evaluation in the VSClinical interpretation hub. This webcast will expose attendees to literature reinforcing the quality of our CNV caller, as well as showing examples of CNV analysis to demonstrate how this tool can streamline the analysis process. In this webcast, we will cover:

  • Describing the new CNV guidelines and how Golden Helix tackles their complexity
  • Assessing CNV impact on Gene and Gene Dosage
  • Cited literature referencing the accuracy of VarSeq’s CNV calling
  • Product demonstrations of VSClinical’s CNV interpretation/classification and final report functionalities

Manually traversing the guidelines and classification process is fundamentally complex with multiple criteria considerations, collecting any necessary caveats, and bulk literature review just to name a few. It is our goal to simplify and streamline this process without losing user-control of final results or overlooking any crucial criteria components necessary for final classification. We hope you will join us to see how this is accomplished as we explore the ACMG CNV Guidelines within VSClinical from the user’s perspective!


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