CNV Annotations:

a crucial step in your variant analysis

About this webinar

Recorded On: Wednesday, May 29, 2019

Since the development of our NGS-based CNV solutions for VarSeq and SVS, we've generated a long list of content demonstrating simple workflows to help isolate clinically relevant events for a given sample. However, it's just as important to talk about the exclusionary filters that help remove any extraneous CNVs from the analysis.

Golden Helix stands alone in our delivery of multiple methods for filtering down to top-quality, rare, and clinically relevant variants. This webcast will focus on the application of the various CNV annotations, discussing their purpose and usability in quickly removing CNVs with high-population frequency, duplicated regions inherent to the human genome, benign events, and events known in healthy individuals.

Please join us in an exploration of VarSeq's unique CNV annotation capabilities to see how users can overcome the challenges of NGS-based CNV detection.

What will you learn in this webcast?

  • Initial assessment of sample and CNV event quality
  • General review and understanding of various CNV annotations in VarSeq
  • The application of CNV annotations to eliminate common and benign CNVs

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