Handling a Variety of CNV Caller Inputs with VarSeq

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About this webinar

June 22, 2022

Presented By: Dr. Jennifer Dankoff, Field Application Scientist

VarSeq has become renowned for the accuracy of its CNV Caller, and the ease with which VSClinical takes the user through CNV evaluation. Cited in many publications, this well-validated tool brings our customers the ability to run both variant and CNV interpretations in one program, on data ranging from Gene Panels to whole genomes. What is less well known about CNV analysis through VarSeq, is that our users are not only limited to CNVs called through our software. VarSeq CNV is able to import CNVs in several file formats (VCFs, text, or tsv) generated by a wide variety of secondary callers, allowing the user to analyze their externally derived data. In this webcast, we will take you through the basics of CNV analysis with both the VarSeq CNV caller and from several common external CNV callers.  

Join us in this webinar as we cover:

  • Leveraging the Copy Number Probability and Segregation Algorithm to add power to a CNV Trio workflow.
  • Importing externally called CNVs.
  • Expediting the path to analysis with CNV specific templates.
  • Utilizing the auto-recommendations to efficiently analyze the pathogenicity of several CNV calls and generate clinical reports.

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