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 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.
Availability:
At this first phase, this feature has been made available for germline cases and SNVs and indels only.
Coming Up Next!
Filtering by classification tags in the quick filters and the knowledge base will be enabled.
Still have questions? Reach out to our Support Team, they'll be happy to help!