High Precision Exome CNV Detection with VS-CNV

May 5, 2021 | 12:00 PM EST

Presented by Nate Fortier PhD, Director of Research


The detection of CNVs using exome sequencing data presents unique challenges that require specific considerations and strategies.  Over the past several months, our team has made numerous improvements to our CNV calling capabilities on exome sequencing data. In this webcast we will cover these improvements and provide guidance on developing best-practice workflows for CNV calling from whole exome coverage data. The improvements covered in this webcast include:
  • GC correction
  • New settings for adjusting sensitivity and precision
  • Target quality assessment and filtering capabilities
  • Updated flags for filtering false positive calls
Golden Helix is unique in our support for all stages of the CNV calling and interpretation process and we are constantly striving to improve our CNV analysis capabilities. Please join us for this exploration of VarSeq's improved CNV calling capabilities for exome sequencing data.