Version 89.2 Updates

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

To help prevent accidental data loss, Franklin now prompts you with a confirmation dialog when removing a variant from the Workbench:

This extra step ensures variants are not deleted unintentionally during review or triage. If you prefer to remove this confirmation step for your organization, please contact our support team ([email protected]).

You can now choose the sort type and sort direction when adding Quick Filter labels to a Filter Decision Tree:

Once saved, the selected sort field and direction are shown in a tooltip when hovering over labels in both the tree builder and viewer - making it easy to understand how your filters are structured.

This enhancement ensures that case variants filtered using Filter Decision Trees are presented exactly how you need them. All trees created prior to the enhancement will continue to work as before.

Franklin can now be configured to represent Regions of Homozygosity (ROH) as variants in the Workbench and Variants tab, labeled as LOH:

This enhancement provides a unified variant view, allowing ROH segments to appear alongside other structural variants in the Variants SV tab, in addition to their representation as ROH via the existing Workbench link. The enhancement therefore enables seamless filtering and interpretation, allowing the review of ROH findings using the same variant interpretation tools and filters. Additionally, the enhancement offers easier reporting, allowing the addition of ROH findings to your report just like any other variant. Overall, this enhancement makes ROH interpretation more intuitive, ensuring full visibility and consistent handling within your case workflow. If you would like to enable this feature for your organization, please contact our support team ([email protected]).

The Internal Frequency widget now includes high-confidence counts for germline SNP variants, alongside case numbers, percentages, and homozygote counts. For germline variants, a single click opens a dashboard displaying ethnicity, phenotype, and unaffected distributions, while a second click opens a detailed list of relevant samples. For somatic variants, a single click opens the sample list directly.

Additionally, a new “Inheritance” column has been introduced for samples that were probands in germline family analyses. This column displays the variant’s inheritance pattern - such as Autosomal Dominant, Autosomal Recessive, X-Linked, or De Novo - when available. This enhancement applies to samples annotated in version 89 and later.

The version of each panel used for a case can now be included in the Report. The panel version information improves traceability and ensures that every report clearly reflects the exact panel configuration used during analysis.