VSClinical

If licensed, VarSeq includes the support of multiple workflows under the VSClinical tabs. These currently include support for the ACMG Guidelines and a display of relevant variant annotations called Variant Dashboard.

Each workflow has its own licensing requirements and configuraiton options. Select the workflow from the open tab, or switch workflows on the toolbar of the tab at any time.

ACMG Guidelines

This workflow requires the ACMG Guidelines product to be enabled as an add-on to your VarSeq license. When starting a VSClinical workflow, you will be greeted by the VSClinical options dialog, which allows you to configure your workflow.

VSClinical Options

These options include the following:

  • ACMG Assessment Catalog: This option is used to select an assessment catalog to be used to store finalized classifications. A new assessment catalog can be created by clicking the “Create ACMG Catalog” button.
  • Input Variants to Interpret: This section is used to select the record set containing the variant to be evaluated.
  • Primary Findings: This section is used to select the record set containing all variants to be included as primary findings in the generated clinical report.
  • Secondary Findings: This section is used to select the record set containing all variants to be included as secondary findings in the generated clinical report.

Variant Dashboard

This workflow requires the VSReport and Clinical Algorithms product to be enabled as an add-on to your VarSeq license. The variant dashboard provides information about each variant through rich and interactive visualizations. This includes things like population frequencies, conservation scores, and functional predictions. All of the information in the variant dashboard is automatically updated to reflect the currently selected variant in the table.

Variant Dashboard