Introducing VSClinical


Streamlining ACMG Variant Interpretation Guidelines

Abstract

We have seen the widespread adoption of VarSeq in the clinic. It is chosen for its versatility and flexibility as well as the extensive catalog of annotations provided by Golden Helix. In a genetic testing scenario, VarSeq provides the annotated and filtered list of high-quality variants to that are ready for the user to classify and interpret.

In this webcast, we introduce a new product VSClinical that enables the interpretation of variants following the ACMG Guidelines. By incorporating new algorithms and annotation sources, detailed variant scoring and classification can occur right within VarSeq and without the need for additional external tools or resources.

Join us to see these upcoming capabilities:

  • Streamline the ACMG scoring guidelines with supportive recommendation and incorporated historical precedence
  • See the new algorithms behind the automated recommendation algorithm, and how they provide various levels of evidence
  • Drill down to an unprecedented level of supporting evidence for mutation hot spots, splice site predictions, and related clinical assertions
  • Build your own lab practices around new capabilities of blinded interpretations, collaborative interpretation review and detailed audit logs for CLIA compliance
  • Finalize your interpretation for a sample and compose the clinical report with the classified variants and their interpretation

In combination, this can be a game changer for any clinical lab looking to improve their efficiency and reproducibility of the most complex step in the genetic testing workflow.

About the Presenter

Gabe Rudy

Gabe Rudy is Golden Helix'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.