Introducing VSClinical:

Streamlining ACMG Variant Interpretation Guidelines

About this webinar

Recorded On: Wednesday, April 18, 2018

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.

Watch on demand

Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.

Download the slide deck

To download a copy of the slides, click on the LinkedIn icon. This will redirect you to the SlideShare site. From there, you can clip your favorite slides or download the entire deck to your computer.

Love this webcast? Check out more!

Find out how Golden Helix software enables users to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.