A new version of Franklin was just released! We’re excited to announce new features on our WGS, tumor, and microarray workflows, as well as several transversal tools to help our users enhance their genetic interpretation for all clinical and research applications.

Once more, an exciting data-sharing initiative, developed by our local communities and powered by Franklin. After the success of the Franklin Mexican database, and in line with our mission to provide real-world evidence for all populations, we’ve partnered with our users in India and Turkey to create a local database representing these countries’ unique genetic backgrounds.

All users now can gain insights from these country-specific data while conducting their variant interpretation on Franklin. Just head over to the Population Frequencies tool on the Variant Assessment tab, and take advantage of Franklin’s own population databases for Mexico, India, and Turkey, as well as well-known specific and general genetic data repositories, such as gnomAD, ExAC, GenomeAsia, 4.7KJPN and ABraOM.

If you’re interested in launching your own country’s database on Franklin, contact us!

This release includes several updates that improve the evaluation of variants for WGS cases.

Franklin now provides dedicated support for the detection and interpretation of trinucleotide repeats (TNR). When the number of triplets present in a mutated gene is abnormally greater than the number found in a normal gene, the platform will call it and display the variant in the workbench, with its associated classification. To assist with TNR expansion evaluation, Franklin presents links to relevant publications and curated information on a gene-specific level, including the thresholds for normal repeats.

Other enhancements related to WGS analysis include the improved tools for the evaluation of runs of homozygosity (ROH), some additional filtering capabilities to narrow down the list of structural variants (SVs), and the overall optimization of the annotation during the case creation process for all variants that can be found in a whole genome case.

Franklin’s new and improved tumor case capabilities make it so much easier to issue a comprehensive clinical report.

The platform automatically reapplies the last variant classifications by directly importing them from your organization’s private knowledge base, saving time and effort when encountering a previously classified variant.

In addition, in order to help with the case review process, Franklin allows the drafting of classification and interpretation text and shows a preview of the preliminary and final reports before issuing them.