Franklin Community Corner
New collaborations
A warm welcome to the new Franklin Professional users! These organizations have recently started working with the full capabilities of the analysis platform:
In Belgium, Antwerp University Hospital (UZA) and Ghent University
In Brazil, the Heart Institute (INCOR) at the University of São Paulo
In Canada, Unity Health Toronto and Montreal University Hospital Center (CHUM)
Looking for Franklin in Australia and New Zealand? Reach out to our mates at Decode Science, our new local distributors in Oceania!
Events
We’re attending the European Society of Human Genetics (ESHG) Conference in Glasgow! Come visit us at booth #778.
Release Notes
Check out the latest updates in Franklin! The May 2023 release comes with advanced tools to help optimize your case analysis process for both germline and somatic assays, reaching faster and more efficient results.
Here's what's new in Franklin:
Multiple variant selection
Streamline your case analysis process with this new, intuitive feature. Now, when analyzing a case from the Workbench or the Variants page, you can select multiple variants and modify their status in bulk. That way, users are able to add/remove multiple variants from the workbench, include them on the report, or mark them as clinically significant or irrelevant.
Somatic fusion viewer
Using Franklin for tumor profiling? You’ll enjoy this new tool specially designed for somatic users. With our new fusion viewer, visualizing these complex structural variants has never been easier. The latest Fusion Viewer gives you a clear view of the two genes that are involved in the variant, with intra-exon precision.
When analyzing a tumor case with this type of variant, just head over to the Variant Assessment tab for any fusion, and take advantage of this new and improved visualization tool.
Stay tuned for further improvements on fusion interpretation tools in the upcoming deployments!
Germline coverage report view
Have you ever wondered what the fastest way to view the CNV model behavior for a gene is? Look no further! This new feature allows you to easily visualize the confidence graph for the entire gene from the Coverage Report, as well as other gene-level annotations.
To access this fantastic visualization, go to the Coverage Report for your case, select the gene of interest, and click on the button labeled “Gene confidence view” to the right. The popup will show you the confidence widget centered on that gene’s coordinates, with all the exons/targets and their metrics, including the Predicted Copy Number and the Prediction Score. Click here to learn more about the Confidence view for CNVs, or ask for a dedicated training session!
On the same popup, users can become familiar with other annotations for the gene, such as Gene Assessment (with Summary, table for Curated Variants Distribution, and Gene Pathogenicity metrics), as well as Publications and Associated Conditions.
Pro tip: Use the sidebar on the Coverage Report to filter or search for a specific gene of interest.
Other improvements
Sample sheet upload: Our team has optimized sample sheet upload to improve the bulk upload process, making it easier and more intuitive for high-throughput organizations to import large batches of samples into Franklin.
Heterodisomy UPD: New family case feature! Franklin now detects both heterodisomy and isodisomy uniparental disomies (UPDs) in trio cases.
We would like to invite you to explore the new features and enhancements and share your feedback with us. If you have any questions or feedback about this update, please don't hesitate to reach out to us.
If you’re interested in learning more about these new features, or want to explore analyzing FASTQ files and exporting custom reports with Franklin Professional, feel free to schedule a call!
- The Franklin Team |