Clinical Variant Analysis with VSClinical: Virtus Diagnostics Case Study and Review of ACMG & AMP Guidelines

About this webcast

Recorded On: Wednesday, October 30, 2019

It is our pleasure to announce the following speakers for our Golden Helix webcast for the Asia-Pacific region:

• Val Hyland, Molecular Genetics Chief Scientist, BA(Mod) PhD, Virtus Diagnostics
• Peter Field, Molecular Genetics Supervisor, Virtus Diagnostics
• Gabe Rudy, VP of Product & Engineering, Golden Helix

Val Hyland and Peter Field from Virtus Diagnostics (Brisbane) discuss two cases from their cohort of 1095 patients that were screened for inherited diseases using the Illumina 552 genes Inherited Disease screening panel. They found 637 different pathogenic/likely pathogenic variants in 252 genes using a combination of software tools from Golden Helix, including VSClinical, Sentieon and Illumina. This presentation is based on a poster first presented at the HGSA Wellington Conference in 2019 which can be referenced here.

Gabe Rudy from Golden Helix discusses how VSClinical can be used to follow the ACMG & AMP guidelines for the interpretation of germline and somatic variants, respectively. By incorporating new algorithms and annotation sources, detailed variant scoring, classification, and interpretation can occur right within VarSeq without the need for additional, external tools or resources. These capabilities are designed to improved throughput while allowing the lab to maintain consistent quality.

View the webcast recording to learn more about these powerful capabilities:

• Streamline germline variant interpretation using the ACMG scoring guidelines with automatic criteria recommendations and incorporated historical data
• Quickly determine the oncogenicity of somatic mutations using our automated oncogenicity scoring system
• Apply the AMP Tiers to the available clinical evidence for Drug Sensitivity, Drug Response, Prognostics and Diagnostics
• Develop a lab-specific knowledgebase of interpretations that allow maximum re-use of interpretations and descriptions from one patient to the next
• Leverage the built-in Golden Helix CancerKB interpretation knowledgebase that covers many common genes and biomarkers
• Finalize your interpretation for a sample and compose the clinical report with the classified variants and their interpretation