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

To improve your workflow, we've added a Batch View feature. When uploading cases, you can now assign a batch name to the case. Setting the batch data will organize the cases under the specified batch name, providing a grouped view and progress tracking of batched work directly on the cases screen. You can easily switch between case view or batch view in the cases list page.

Batch view was in Beta version, and is now released for all accounts.

Franklin now supports the ability to upload a batch of cases and identify all new unique variants that lack prior organizational classification. This functionality streamlines variant curation by enabling users to focus on working with unique variants directly in the knowledge base, rather than curating variants within individual cases.

Organizations can configure filters to control which variants are included in the list of unique variants, ensuring greater flexibility and precision in the curation process.

To improve filtration options, we have refined the distinction between “unknown gene inheritance” and “N/A (no conditions associated) gene inheritance.”

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.

The filter tree builder now supports new ClinVar filtration options: RCV and SCV.

Note: Filters created prior to this update will remain fully supported.

You can now view all related sample files directly in the case details, such as FASTQ, VCF, BED, and CSV files. The widget displays essential information like sample name, creation date, and file names with extensions. For family cases, sample files for all family members are organized and displayed per their family role. Additionally, you can download each file by clicking the download icon.

Franklin now supports viewing CNV internal frequency and filtering by this value. In addition to internal occurrences, users can filter CNVs based on internal frequency (percentage).

As with internal occurrences, a CNV is counted in the internal frequency if it overlaps with at least 50% reciprocal overlap. The internal frequency is displayed in the variants' extended tile, and the filter can be found under the occurrences filter section.

Dragen 4.3 now includes additional tags in the native parser, enhancing variant interpretation. Variants located in high homology regions are labeled with the 'HML' tag, while potential mosaic variants receive the 'MOSAIC' tag. Additionally, variants called by phasing two or more variants receive an 'MNVTAG' in the VCF to indicate association with the same MNV. These tags are now highlighted in the confidence section, aiding users in recognizing significant genomic features.

You can now configure automated report signoff on the assay level. This allows reports to be automatically signed off for all cases or based on specific case statuses, such as negative status. The report is triggered once a case reaches a predefined status, streamlining the reporting process. To enable this configuration please contact Franklin support team.

If you have any questions or need assistance, please refer to our help center or reach out to our support team ([email protected])