Version 84.1 Update

We are happy to introduce several enhancements and new features in our latest update:

We have introduced the Snippet Library in Franklin — designed to help your team manage and reuse standardized text across the platform. Initially integrated into variant interpretation workflows, this feature streamlines the process of adding consistent, high-quality content, with broader use cases planned for the future.
Use the new “Add Snippet” button in interpretation fields to quickly search, browse, and insert relevant content from your organization’s library — grouped, searchable, and fully editable after insertion.

To enable the Snippet Library for your organization, please contact our support team ([email protected]).

As part of Franklin/Manta compatibility capabilities, we now display "Length: N/A" (instead of "1 bp") on the Insertion variant tile when the VCF does not contain information about the variant's length. This typically occurs when DRAGEN is unable to fully assemble the inserted sequence. Large insertions are still reported in such cases, even when the full insert sequence cannot be reconstructed.
In addition, you can utilize the "Include N/A" checkbox in the SV Length filter to choose whether or not to display these variants in your filter results.

When manually adding a CNV from the workbench in germline cases, you may now specify a copy number. The copy number can be a whole number or a decimal and will be displayed on the variant tile and in the Report. Furthermore, when adding a variant in ISCN format, the copy number is automatically extracted from the input string. Moreover, the zygosity question is no longer displayed when adding CNVs.

We additionally introduced a validation of the variant type, which applies when manually adding any variant to a case from the workbench. This validation prevents adding variants of unsupported types or that are not present in the current case, and triggers an error message. Furthermore, irrelevant input example buttons are dynamically deactivated to minimize human error.

In workflows involving Franklin’s whole genome viewer, you can now add a CNV (deletion or duplication) to case directly from the whole genome viewer:

Variant start and end positions can be typed, or set using the drag handles. CNV type and copy number (whole or decimal numbers) can be input as well. This enhancement allows you to view large chromosomal regions and visually add CNVs directly in Franklin, streamlining your workflow.

In tumor (somatic) cases, on the Somatic Clinical Evidence tab, we have enhanced organization-added evidence tiles to include a clickable PubMed link, opening the source publication in a new tab.

Fixed an issue in tumor (somatic) cases where the lists of drugs that a variant or a biomarker is responsive or resistant to, which appear on the variant or biomarker tile in Report Preview, were truncated (this did not affect the Report itself). The full lists can now be viewed, as well as copied to clipboard, by hovering the variant or biomarker tile in Report Preview.

Fixed an issue in tumor (somatic) cases where columns in the Somatic Case Summary were skewing on narrower screens due to long names in the "Relevant Biomarkers" column.

Fixed an issue where the Family Zygosity field in the Orthogonal Confirmation Excel export contained redundant text.