We are excited to announce the last release of 2022! This update includes several new features and enhancements designed to improve your variant interpretation and reporting process.
Improved variant interpretation and reporting
We strive to make variant interpretation and classification as breezy as possible. We've added a few features to help you better write and export the interpretation text while classifying any genetic variant.
Write your interpretation text from the sidebar
We added a new Variant Interpretation button on the right side of the Variant hub, which allows the user to write and save their interpretation text while reviewing the wealth of Franklin’s annotations and visualizations. You can even toggle between the other tools located in the sidebar, such as the Community Feed, the Discussion Topics, and the Case Details. Remember to click on the “Save Draft” button to have your text automatically imported to the final classification and report!
Note: This feature is currently available in somatic cases, and it will be extended to germline analysis soon.
Generate the interpretation blurb automatically
If you’ve been using Franklin to analyze panels for a while, you might know that we offer the possibility of automatically generating an interpretation text based on Franklin’s broad range of annotations. Just by clicking on the “Classify” button, you can get a customizable automated text that comprehensively explains the rationale behind the suggested classification. This feature helps users reduce manual work, saving a lot of time and preventing human error in the reporting process.
Now, our team of clinical curators and AI developers have optimized this feature to offer our users the best possible automated blurb, which includes all the ACMG criteria applied, as well as other annotations such as the variant effect, relevant publications, the frequency in population databases and your organization’s own repository, and more.
Include curated cancer risk data in your hereditary cancer report
Special news for Franklin users performing Hereditary Cancer analysis! Our new and improved report includes cancer risk information from the best sources available, curated by our own clinical specialists. With just one click, you can generate a report that contains a gene summary for each relevant variant, as well as a cancer risk table with increased risks and age, and a recommendation for the next steps.
As with every section of Franklin’s report, these are customizable and can be modified according to your organization’s needs. You may change the structure, the content, the evidence included, and even the language!
Other improvements
Updated ECS gene catalog: We’ve added more genes to our solution for Extended Carrier Screening, in order to help our users offer a comprehensive solution for couples considering or with an ongoing pregnancy.
Improved internal frequencies: We’ve worked on restructuring our calculations for internal frequency on somatic variants to present our users with a more robust and efficient metric.
Artifact mitigation: We've addressed a number of issues to make Franklin even more reliable, with a special focus on improving the detection of kit-specific artifacts for somatic cases.
We hope these new features will enhance your experience with Franklin and make it even more useful for your work. 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 Premium, feel free to schedule a call!
- The Franklin Team |