Webcast: CNV Annotations: a crucial step in your variant analysis

Abstract

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

About the Presenter

Darby Kammeraad

Darby Kammeraad is the Field Application Scientist Manager at Golden Helix, joining the team in April of 2017. Darby graduated in 2016 with a master’s degree in Plant Sciences from Montana State University, where he also received his bachelor’s degree in Plant Biotechnology. Darby works on customer support and training. When not in the office, Darby is learning how to play guitar, hunting, fishing, snowboarding, traveling or working on a new recipe in the kitchen.