We are happy to introduce several enhancements and new features in our latest update:
GBA Biomarker
We have added support for displaying GBA reuslts from Dragen targeted caller. This is presented as a workbench tile, same as the SMA biomarker tile. The gene results include:
Total Combined GBA and GBAP1 Copy Number Assessment
Recombinant Haplotype
Nonrecombinant-like Variant
This feature is available for DRAGEN analyses that include targeted caller JSON output.
Tumor Cases: Manually Add CNV
You can now manually add CNVs to the workbench in tumor (somatic) cases, similar to manually adding SNPs. Supported input formats are provided as examples, and you will be prompted to input a copy number. Added variants will appear on the workbench and the report (presently will not show on the Variants screen).
Bug Fixes:
Tumor Cases: Color Legend in My Organization Classification filter
In tumor cases, on My Organization Classification filter on the Variants tab, we have corrected the color labels of somatic and oncogenic classes. They are now aligned with the colors associated with the classes throughout Franklin.
Variant Selection before Tab Loading Completed
Fixed an issue where variant tiles that were selected in the Variants tab before the tab has fully loaded created an offset of the tile selection counter.
Organization Classification - AMP/ASCO Classification Filter
Fixed a filtering issue in internal somatic classification of CNV (tier-based classification).