CNV Analysis in VarSeq

A User's Perspective

About this webinar

Recorded On: Wednesday, April 19, 2017

Clinical labs must have the ability to go from a collection of samples to a professional report documenting a shortlist of clinically relevant variants and copy number variants. Copy number variants (CNVs) in particular play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. The VarSeq CNV Algorithm (VS-CNV) has been developed to help facilitate this analysis in a single algorithm that can be run in conjunction with your variant analysis.

In this webinar, we will discuss the typical CNV workflow from a VarSeq user’s perspective which will include the following topics:

  • Overview of current best practices in the CNV calling
  • The VS-CNV algorithm and the metrics it uses to call CNVs from NGS data
  • Validation of both large and small CNV events
  • Including CNVs within a Clinical Report

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