VarSeq as a Clinical NGS Platform


Date: Wednesday, April 15th, 2015

Presenter: Gabe Rudy, VP of Product & Engineering

Duration: 60 Minutes

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Slides

VarSeq as a Clinical NGS Platform

Abstract

The focus of VarSeq has always been to take the sometimes complex task of annotating and prioritizing variants and make it simple, intuitive and repeatable.

The power of VarSeq's project-based repeatable workflows has already been adopted by clinical labs such as NorthShore University HealthSystem and Prevention Genetics, and we continue to build features to support the compliance and data privacy requirements of a clinical environment.

This webcast highlights some of our new features for supporting gene panel screenings and rare variant diagnostics:

  • Harmonize filtering and ranking approaches to prioritize variants with our phenotype-based gene ranker
  • Track your lab's variant assessments in a centralized database that's easy to customize and never forgets previous assessments
  • Capture the analysis process used and snippets or screenshots of interest in the project note editor

About the Presenter

Gabe Rudy

Gabe Rudy Meet 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. Follow Gabe on Twitter @gabeinformatics.