Skip to main content

Variant Classification Tags

Written by Noga Yaffe

Franklin has introduced variant classification tags, allowing tags to be added to variant classification. This enhancement provides a more detailed and customizable annotation of variants, improving the clarity and utility of variant data.

How to Define Tags

  • Default tags: The following tags have been made available to all organizations by default in germline cases:

    • Risk Allele

    • Low Penetrance

    • Protective Allele

    • Hypomorphic

    • Drug Response

  • Custom Tags: Additional custom tags can be added in germline and somatic cases upon request by contacting our support ([email protected]).

How to Add Tags to Variant Classification:

  • From the variant classification page.

  • When uploading variants to the Franklin knowledge base:

    • A new column named "Classification Tags" should be added, listing the tag names separated by commas.

Note: In tumor (somatic) cases, RNA variants are not presently supported for Knowledge Base upload.

Where the Tags Can Be Viewed:

  • On the variant tile and table: Tags will be displayed alongside variant information.

  • Org assessment tab: Tags will be visible within the organization’s assessment section.


  • In a case, on the variants tab, you can filter by classification tags

Availability

This feature is available for germline and tumor (somatic) cases, for all variant types.

Still have questions? Reach out to our Support Team, they'll be happy to help!

Did this answer your question?