Automating NGS Gene Panel Analysis Workflows with Golden Helix

Abstract

In a clinical setting, investing in automatable workflows provides two pay-backs: First, less time is spent by the constraint resource of laboratory staff and medical professionals. Second, and more importantly, the possibilities for errors is reduced. In this webcast, we will cover the full analysis workflow from sequencer to clinical report and how each component can be automated with the Golden Helix clinical stack. Producing high-quality genetic test reports requires the experience of an entire lab and a robust and repeatable process. Join us to see how automation can enable your laboratory to:

  • Automatically start secondary analysis pipelines when new sequence runs are complete
  • Go from FASTQ to BAM and high-quality variants in VCFs hands-off with Sentieon
  • Automatically start VSPipeline to go from raw VCFs to candidate variants
  • Compute coverage and call CNVs alongside small variants with VS-CNV
  • Generate short-list previously scored variants, annotated full candidate variant lists and draft reports with VarSeq and VSClinical

Join us for a tour de force of NGS analytics powered by the Golden Helix VarSeq clinical stack and learn about how each component of your laboratory NGS analysis process may benefit from automation capabilities.

About the Presenter

Gabe Rudy

Gabe Rudy Director of Research for Golden Helix, 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.