About this webinar
Recorded On: Wednesday, January 13, 2021
Presented By: Golden Helix Field Application Scientist Team: Eli Sward, Ph.D., Darby Kammeraad, and Julia Love
Clinical variant analysis involves many steps and potentially requires the expertise and input from multiple individuals. For many, this process can be rather complex as it entails moving the data from user to user and possibly multiple platforms or internal bioinformatic pipelines. In general, this workflow can be broken down into three stages:
- Quality control (QC) and processing of the data. This step involves importing the data into a tertiary analysis platform and validating that the variants and samples are high quality.
- Variant evaluation using different genomic databases and annotation sources, which is then incorporated into a draft report.
- Assessment and assurance that the previous steps were performed correctly and a sign-off on the report.
Golden Helix offers VSClinical, a complete clinical workflow solution that simplifies and streamlines the clinical analysis process outlined above. VSClinical is a single testing paradigm that consolidates and automates the tertiary analysis workflow. With this software, users can perform variant and sample QC, create a variant evaluation using a plethora of public and licensed annotation sources and evaluate variants with the automated ACMG and AMP guidelines for SNVs, Indels, and CNVs. All this information can then be used to create a clinical report with our new word-based report templates.
In this webcast, we plan to demonstrate the full clinical analysis workflow within VSClinical, focusing on the topics below:
- How easy it is to perform the different stages of a tertiary analysis in VarSeq and VSClinical
- The fluidity in transferring data between different users
- Evaluating germline and somatic variants according to the ACMG and AMP guidelines
- Creating and signing off on a clinical report with the new word-based templates
Watch on demand
Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.