VS-CNV Annotations from the User's Perspective

Learn how our comprehensive clinical workflows integrate with annotating and reporting high-quality CNVs alongside existing NGS variants.


Next-generation sequencing has enabled clinicians and researchers alike to identify novel genetic variants associated with rare Mendelian Diseases across the human genome. To help enable researchers and clinicians understand the role of CNVs in human health and disease, Golden Helix has a fully integrated CNV annotations to provide clinicians and researchers with more effective methods to identify pathogenic CNVs for heritable diseases. In this webcast, we will present our comprehensive clinical workflows that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants.

About the Presenter

Steve Hystad

Steve Hystad joined the Golden Helix development team in November of 2016 as a Field Application Scientist. Prior to that, Steve worked as a Regulatory Affairs Specialist and Molecular Biologist. Steve earned his Masters in Plant Genetics from Montana State University in 2014. As an FAS, Steve works on data curation, customer support and VSReports. When not working, Steve is skiing, hiking, rafting or searching for Forrest Fenn's treasure.