Franklin supports adding new variants to a case or editing existing called variants for both SNVs and CNVs.
This process can be used for:
Adding calls from different tests/methods
Editing existing variants to override the call made by the different variant callers.
Adding a new variant is done from the Workbench screen (single variant at a time):
Click on the Workbench menu (in the top right corner)
Select "Manually add variants"
Type in the variant SNV/CNV (use the examples to view the supported nomenclatures) and click on "add".
Select the variant zygosity
Click on "Add" at the bottom right corner
After a short processing time, the variant will be added to the Workbench and will be tagged as a manually added variant.
Editing the breakpoints of existing Copy-Number Variants (CNV's), can be done directly from the variant interpretation hub:
Click on "Edit variant"
Type in the start and end positions (the current ones will be displayed)
Click on submit.
The new variant will be added to the Workbench, and the edited variant will be tagged as "not relevant" with a comment indicating it was edited.
Still have questions? Reach out to our Support Team, they'll be happy to help!