VSClinical: First Commercial Product to Integrate the Updated ACMG Guidelines for CNVs

About this webcast

Recorded On: Wednesday, September 9, 2020

Presented By: Gabe Rudy, VP of Product and Engineering

As CNV detection has become widely adopted as a component of NGS testing, the demand has grown for an interpreting framework specific to CNVs in the context of rare and inherited disorders. Earlier this year, a ClinGen working group in collaboration with ACMG, published new guidelines for the interpreting and reporting of CNVs detected by NGS. We at Golden Helix have been hard at work expanding VSClinical to incorporate these new scoring and evaluation criteria for the interpretation and clinical reporting of CNVs alongside small variants in our popular guided workflow for following the ACMG guidelines. This recording will preview the release of VarSeq with this major development. We will cover the following: 

  • The new CNV guidelines, the specialized criteria for gains and losses, and how VSClinical simplifies the scoring and interpretation process
  • How VS-CNV and VSClinical provides a complete solution for clinical detection and interpretation of CNVs for NGS gene panels and exomes
  • The number of CNV specific data sources curated and integrated into the automatic recommendation system 
  • VSClinical’s integrated Word-based template system for designing custom clinical reports that include quality summary information, coverage at exon and gene level, interpreted variants and CNVs, and patient-level results 

We are excited about this major update to VSClinical, incorporating many small feature enhancements and user requests alongside the integration of the CNV guidelines. Please enjoy this webinar to see how CNVs can be an integrated part of the analysis workflow for your clinical NGS tests.

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