Comprehensive Clinical Workflows for Copy Number Variants in VarSeq

Date: Wednesday, September 27, 2017

Presenter: Gabe Rudy, VP of Product & Engineering, Golden Helix

Duration: 60 Minutes



Comprehensive Clinical Workflows for Copy Number Variants in VarSeq


While Copy Number Variants are important to detect and interpret in many clinical genetic tests, labs have been without a comprehensive solution that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants.

Golden Helix has developed and validated with our clinical partners 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.

As this capability is applied to large panels and exomes with many putative CNVs per sample, it is important to distinguish between rare and common CNV regions as well as pull in clinical assessments done on similar CNVs that match the clinical phenotype under test.

Enjoy this webcast recording where we review the expanded capabilities of CNV analysis in VarSeq including how to:

  • Annotate CNV against genes, population catalogs, and clinical sources
  • Automate the prioritizing of CNVs in your test-specific workflows with customized annotation and filtering steps
  • Interpret CNVs in your samples in conjunction with NGS variants with both visual and algorithm support
  • Capture the expert curation of variants in your labs in a CNV based Assessment Catalog
  • Expand your clinical reports with annotated and interpreted CNVs alongside your existing NGS variants
  • Centralize your knowledge-base in VSWarehouse for both variants and CNVs
We hope you enjoy this as we review and demonstrate the comprehensive support for CNVs in VarSeq and the how these concepts apply to your clinical genetic tests.

About the Presenter

Gabe Rudy

Gabe Rudy, GHI’s Vice President of Product and Engineering and team member since 2002. Gabe thrives in the dynamic and fast-changing field of bioinformatics and genetic analysis. Leading a killer team of Computer Scientists and Statisticians in building powerful products and providing world-class support, Gabe puts his passion into enabling Golden Helix’s customers to accelerate their research. When not reading or blogging, Gabe enjoys the outdoor Montana lifestyle. But most importantly, Gabe truly loves spending time with his sons, daughter, and wife.