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 the US, Regeneron is our new Pharmaceutical partner
DASA, the largest medical test provider in Latin America, just started their Franklin implementation
In Japan, OVUS took advantage of our partnership with ThermoFisher and became new Franklin users for CytoScan AIR
Recent events
Did you take photos at our booth in ESHG? We’d love to get them! Share them on Twitter or reply to this email with the pics.
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:
Sneak Peek! Get familiar with the new germline variant tile design
The much anticipated, freshly designed variant tile is here. Our UI/UX team has completely revamped the variant tile in the case analysis section, offering a sleek and intuitive interface. The redesigned variant tile provides you with a comprehensive overview of each variant, ensuring you can effortlessly access crucial information for informed decision-making.
The new variant tile displays:
Franklin’s automated ACMG classification
Zygosity, and inheritance in Family Cases
Variant nomenclature (P and C dot) and genomic location
Aggregated frequency from gnomAD, with the number of homozygous individuals
Internal frequency, from your own organization’s sample repository
Franklin’s unique Community frequency, with the number of homozygous individuals
Confidence, with allele balance
Aggregated in silico prediction, with Revel score for missense variants
Gene’s inheritance mode
ClinVar submissions, divided by ACMG classification
Past classifications from your own Knowledge Base
Of course, you can always click on the variant to go to the expanded view and get all the evidence available for the variant, the gene, and the conditions.
This new and improved variant tile is available for some of our Franklin Professional users, and will be deployed in the Franklin Community version.
Enhanced UI for Bulk Upload of Samples
We understand the importance of efficiency when working with high volumes of samples. To simplify the bulk upload process, we have implemented an enhanced user interface in the Franklin Professional platform for the input of multiple files.
Specifically, the fields 'Sequence type', 'Enrichment kit', and 'Platform', which were redundant, have been removed. These are already inherent within the assay's definition, so there's no longer a need for manual selection when you're choosing an Assay. We've also added new fields: 'Hard Panels' and 'Soft Panels'. To dive a bit deeper into virtual panels in Franklin, click here.
Improve your duo family analysis
We are excited to announce that Franklin now offers enhanced support for duo cases. With our improved functionalities, you can effectively analyze and interpret genetic variants in duo cases, empowering you with accurate and reliable results.
This advanced feature can serve multiple purposes and workflows, including expanded Carrier Screening, family analysis in cases of a deceased proband, donor selection in reproductive medicine, and more.
With Duo analysis, you can assess potential risks for inherited diseases and syndromes, identify potential compound heterozygotic variants, establish more precise residual and child risks, and explore other valuable features and functionalities.
Other improvements
HPO number support: Based on valuable feedback from our community, we have incorporated support for HPO numbers. Now, alongside HPO terms, you can utilize HPO numbers to precisely describe patients’ phenotypes, enabling more granular and accurate phenotype-based analysis.
Variant navigation: We understand the importance of fluid navigation while exploring variants in the Workbench or Variants tab. We have introduced an intuitive feature that allows you to navigate through variants without having to close the Variant Interpretation popup, using the arrow keys on your keyboard.
We genuinely appreciate your continued support and engagement with Franklin. Your feedback and insights are invaluable to us as we strive to deliver the most advanced genetic analysis and interpretation platform in the genomics field. If you have any questions, feedback, or suggestions regarding the latest updates or any other aspect of Franklin, please don't hesitate to contact our dedicated support team.
If you’re interested in learning more about these new capabilities or want to explore analyzing raw data files and exporting custom reports with Franklin Professional, feel free to schedule a call with us!
- The Franklin Team |