We are happy to introduce several enhancements and new features in our latest update:
My org assessment
We have introduced design updates to the organization assessment page and enhanced the display for CNVs. Franklin now shows the classification of variants with more than 50% reciprocal overlap. Additionally, the overlap with the current variant is visually represented through an illustration. These improvements are designed to make it easier to leverage prior classifications of similar variants effectively.
If you would like to configure a different threshold for reciprocal overlap, please contact the Genoox support team.
My Organization Assessment tab shows CNV overlap
Decision Filter Tree Builder Update
The filter tree builder now supports new ClinVar filtration options: RCV and SCV.
Note: Filters created prior to this update will remain fully supported.
ClinVar SCV, RCV and VCV filters are available in Decision Tree Builder
Gene Inheritance Filter
To improve filtration options, we have refined the distinction between “unknown gene inheritance” and “N/A (no conditions associated) gene inheritance.”
Unknown: Displays results for genes that have associated conditions but an unknown inheritance model.
N/A: Displays results for genes with no associated conditions.
To learn more about Franklin’s gene-disease engine and the sources it uses for gene-disease associations, visit this link.
Note: This change updates the logic of the “Unknown inheritance” filter. If you have saved this filter as a quick filter or decision tree and wish to include both "unknown inheritance" and "N/A inheritance" results, you will need to update your filter accordingly.
Improved sex detection for FASTQ and BAM+VCF cases
The sex detection algorithm has been enhanced to better account for coverage differences between autosomal and sex chromosomes. Additionally, it no longer requires model adjustments for specific kits or gene panels.
LOH ISCN
We’ve added the ability to copy ISCN nomenclature for LOH directly to the clipboard. Simply click the pin icon and select “Copy ISCN.”
If you have any questions or need assistance, please refer to our help center or reach out to our support team ([email protected])
The versions details are also provided in Franklin's help center: Version 80 updates