NGS-Based Clinical Analysis


A live demonstration of our workflows that integrate the NGS-based CNV caller into SVS.

Abstract

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 integrated a specialized NGS-based CNV caller capable of detecting deletion and duplication events as small as single-exons and as large as whole chromosome aneuploidy events. In this webcast, we will present our workflows that integrates the NGS-based CNV caller into SVS.

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.