Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have.
VSClinical: a comprehensive NGS clinical solution
The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun, 29 August, 14:00-15:00. This will be moderated by Golden Helix President & CEO, Andreas Scherer, joined by the Golden Helix Field Application Scientist Team, Darby Kammeraad, Eli Sward, and Julia Love.
Clinical variant analysis is an intricate process that requires the expertise from multiple individuals and entails moving data from multiple users and bioinformatics pipelines. Generally, this workflow can be broken down into three stages.
- Quality control of variants and samples.
- Variant evaluation using best practice ACMG/AMP guidelines.
- Reporting and management of data.
To streamline and simplify this process, Golden Helix offers VSClinical. VSClinical consolidates and automates the tertiary analysis workflow into one platform. With this software, users can perform variant and sample QC, create variant evaluations using an automated ACMG/AMP workflow, and generate a clinical report. Lastly, this information can be stored in VSWarehouse, which servers as a sample and variant repository for large genomic datasets.
We plan to demonstrate the following topics:
• The simplicity in performing the different stages of a secondary and tertiary analysis
• The fluidity in transferring data between different users
• Demonstrating the automated ACMG and AMP guidelines for SNVs and CNVs
• Creating and signing off on a clinical report with the new word-based templates
• Using VSWarehouse to store the genomic data
Supporting the New ACMG Guidelines for NGS-based CNVs for Genetic Testing Labs
The second talk, Supporting the New ACMG Guidelines for NGS-based CNVs for Genetic Testing Labs, will be on Mon, 30 August, 18:45-19:45. This will be moderated by Golden Helix President & CEO, Andreas Scherer, joined by our VP of Product & Engineering, Gabe Rudy, and Director of Research, Nate Fortier.
As CNV detection has become widely adopted as a component of NGS testing, the demand has grown for an interpreting framework specific to CNVs in the context of rare and inherited disorders. Golden Helix VSClinical is the first commercial product to integrate newly published CNV guidelines from ClinGen and ACMG into our existing variant interpretation software that automates and assists in the variant scoring, interpretation and clinical reporting of NGS variants and CNVs.
In this event, we will review these new guidelines, how CNVs can be detected from NGS-based data, and how the guidelines for interpreting them can be put into practice in a clinical testing lab. We will cover:
• The new CNV guidelines, the specialized criteria for gains and losses, and how VSClinical simplifies the scoring and interpretation process
• How VS-CNV and VSClinical provides a complete solution for clinical detection and interpretation of CNVs for NGS gene panels and exomes
• The number of CNV specific data sources curated and integrated into the automatic recommendation system
• VSClinical’s integrated Word-based template system for designing custom clinical reports that include quality summary information, coverage at exon and gene level, interpreted variants and CNVs, and patient-level results