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:
Tags: The following tags have been made available to all organizations by default:
Risk Allele
Low Penetrance
Protective Allele
Hypomorphic
Drug Response
Custom Tags: Additional custom tags can be added upon request by contacting Genoox 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.
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 cases for SNVs and SVs.
Still have questions? Reach out to our Support Team, they'll be happy to help!