We are happy to introduce several enhancements and new features in our latest update:
Easily View the VCF Line of a Specific Variant
We have introduced an enhancement that allows you to see the relevant VCF line for a specific SNP or SV germline variant directly from the Franklin platform. This enhancement allows you to view raw variant information from a case’s VCF without downloading the entire VCF file and manually search for the variant. The “See VCF” option is available from the location icon dropdown menu on the variant tile:
When selected, a popup displays the relevant VCF line, with a copy option — making it faster and easier to access the information you need:
Contact our support team ([email protected]) to enable this feature for your organization.
Integration with External Orthogonal Testing Systems via API
Franklin now supports integration with your organization’s orthogonal testing systems via API. Variants flagged as “Need orthogonal testing” can be automatically pushed, along with relevant metadata, to external systems — streamlining the workflow and reducing manual effort.
This integration is customizable and can be triggered automatically. To enable it for your organization, please contact our support team ([email protected]).
Bug Fixes
Self Fusion Variant Name
Fixed an issue where a the variant name of a self fusion (e.g. Fusion: EGFR::EGFR) appeared in a partial format (e.g. Fusion: EGFR) in the variant’s pop-up header.