We’ve just released several important new features, focused on making Franklin more user-friendly and functional for our worldwide genetics community.
New features include:
GRCh38 support
The wait is over!
Both the Search function and the Case Analysis application fully support hg38. You can now search for single or structural variants, and create cases from VCF files aligned with the most updated reference genome.
Customized reporting
(Pro/Enterprise feature)
Our new and improved reporting studio allows you to create customized clinical reports, tailored specifically to your organization.
You can now customize all sections in the report:
Logo
Contact information
Patient and case details
Reporting categories
Variant interpretation structure
Methods
Limitations
And more...
You can also save all your customizations to generate a template for reuse.
Integration with your case analysis process
The Report Studio is designed to integrate with your case analysis process, so you can streamline this step into your regular case assessment workflow without any additional effort. By using the different bins in the workbench, you can differentiate causal variants, secondary findings, and any other category that you wish to report on. The variant classification and interpretation are taken directly from the classification tab.
Some of the newest reporting features include:
Reporting of compound variants, such as combined SNP/CNV or compound heterozygous variants, using a single interpretation text for the pair.
The option to add extra sections into the variant classification application, to be incorporated into the final report.
Include interpretation comments, references, or any other desired categories during the variant analysis process, and watch them appear effortlessly on the final report.
Enhanced UI that centralizes all the case information to be included in the report. Users can now edit case details from the Report Studio in a much more intuitive manner, and the changes will be immediately synchronized with the case data. These case fields are also customizable and can be adapted to the needs of the specific organization.
Improved sign-off process, allowing you to issue preliminary and final reports to support the organization’s review and authorization procedures. Users can even make revisions (amendments and addendums) after the final report has been issued.
Export the styled clinical report as a Word or PDF file.
Full integration with EMR via REST API (HL7, JSON, XML)
New WGS features
There are two major updates to our whole genome sequencing (WGS) analysis tool, focused on improving their usability.
Improved merge mechanism
Large variants, which were previously fragmented, can now be processed as one single variant. This results in a more accurate CNV calling and a faster interpretation process, significantly reducing the number of variants the analyst has to go process.Easier access to WGS
Thanks to a new predictions model added to the pipeline, users can now start using the WGS workflow without having to upload a batch of samples. This means you can start using the WGS feature with just a few single samples and get them fully analyzed (including variant calling and annotation).
Other improvements
OCA workflow
New QC metrics for RNA and DNA analytics
Possibility to filter by copy number
More CNV quality metrics
General experience
When filtering by ClinVar classification, users now can include variants that aren’t reported in that database
All SpliceAI scores are now available, while previously Franklin would show only the more significant ones
We hope you find these updates useful! We encourage you to give them a try and share your thoughts. We appreciate your feedback.
If you’re interested in learning more about these new features, or want to explore our new and improved reporting studio, feel free to schedule a call with us!
- The Franklin Team |