CNV Analysis in VarSeq - A User's Perspective

Date: Wednesday, April 19th, 2016

Presenter: Nathan Fortier, Senior Software Engineer & Field Application Scientist

Duration: 50 Minutes



CNV Analysis in VarSeq


Clinical labs must have the ability to go from a collection of samples to a professional report documenting a short list 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

About the Presenter

Nathan Fortier

Nathan Fortier joined the Golden Helix development team in June of 2014 and is a Senior Software Engineer and Field Application Scientist. Nathan obtained his Bachelor’s degree in Software Engineering from Montana Tech University in May 2011 and received a Master’s degree as well as a PhD in Computer Science from Montana State University. Nathan works on data curation, script development, and product code. When not working, Nathan enjoys hiking and playing music.