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Release Notes
We're excited to bring you the latest breakthroughs in genetic analysis with Franklin's newest update! Our commitment to empowering your research and clinical insights is unwavering, and this release introduces a trio of remarkable features that are set to transform the way you approach genetic data.
Here's what's new in Franklin:
ACMG Classification Updates
We are pleased to announce significant enhancements to Franklin's ACMG classification, informed by the latest recommendations from ClinGen. Our commitment to technical excellence has led to the expansion of evidence from ClinVar, now encompassing segregation, de novo occurrences, and cases in both dominant and recessive conditions. This strategic refinement aims to reduce reliance on the PP5 rule, replacing it with the application of other relevant rules such as PS2, PS3, PS4, PM3, and PP4, contingent upon the available evidence. For a comprehensive understanding of these advancements, we encourage you to delve into the specifics provided in our detailed article.
In addition to these improvements, we’ve added more gene-specific guidelines to the automated ACMG classification. Franklin now boasts integration with ClinGen's updated functional study database and adherence to their latest recommendations for BRCA1 and BRCA2, aligning with ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications. This ensures compliance with the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.
New Gene Curation Tools
Elevate your genetic analysis capabilities with Franklin's new Gene Curation Tool. Now, you can enhance your data at a gene level using the 'Curate gene' option in the Knowledge Base. This feature empowers you to not only add genes to panels but also establish comprehensive associations with conditions, including detailed information on phenotypes, inheritance modes, disease mechanisms, age of onset, penetrance, and more.
Taking customization to the next level, Franklin allows your organization to create personalized gene summaries. Crafted summaries can be seamlessly exported directly to your reports, ensuring a tailored approach to presenting genetic information. Explore the precision and efficiency that the Gene Curation Tool brings to your analyses, providing a streamlined pathway to enriched genetic insights and more personalized reporting.
Protocols
Dive into a new era of efficiency with Franklin's latest feature – Protocols. These case management entities within Franklin offer a structured framework for conducting analyses within your organization. Protocols act as digital checklists, enabling you to streamline processes, maintain consistency, and assign tasks effortlessly to specific users or groups.
Users can tailor protocols to different analysis types, ensuring versatility and precision in your workflow. In the case workbench, right next to "Case Data," you'll find Franklin Protocols, making progress tracking and task management a seamless part of your daily operations. Mark tasks as completed with a simple check, and assign them to users by effortlessly hovering and pressing on the user icon. Learn how to use this amazing new feature here.
Other improvements
New gnomAD data: Welcome gnomAD v4.0! All hg38 variants are now annotated according to the latest gnomAD data, which includes a larger and more diverse set of individuals, as well as improved QC metrics for filtering.
Assay selection in Family Case creation: It is now possible to select the assay to be used for a Family Case when creating the case manually in the “New Case” UI.
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 |