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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:
New Pedigree Drawer
Say hello to the new Family Pedigree Visualization – a dynamic way to explore and understand family connections in Family Cases.
Seamlessly integrated into the Case Details side panel on the Workbench, this visual representation of family pedigrees is generated from the comprehensive data of case family members. In instances where a family member's sample isn't available in the analysis, their representation is tactfully demarcated with a dashed line.
But that's not all – for cases involving intricate family structures, the option to delve deeper is just a click away. Select "See full pedigree" to reveal an expanded view within the case details popup screen. For those who seek a more profound understanding of complex familial cases, the Pedigree Drawer is your compass.
Enhanced Filtering on the Variants Tab
Unlock a new dimension of precision in genetic analysis with Franklin's latest update. Seamlessly exclude specific gene panels, refine your variant selection by utilizing gnomAD's 95% confidence level for population frequency filtering, and gain finer control over variant inclusion by filtering based on proximity to the nearest exon edge.
These powerful enhancements not only streamline your workflow but also ensure that you're making data-driven decisions with unwavering confidence. To apply these new filters, head over to the Variants tab in any case analysis, and make your selection on the Filters sidebar on the left.
For Panel Exclusion: In the Panel section, add the panel you want to filter out (previously created in the Knowledge Base) and click on the tickbox twice to exclude it from the variants list.
For the highest sub-population frequency in gnomAD: In the Frequency section, go to gnomAD max (95% CL) and choose a level from N/A, Very Rare, Rare, Common, or click on the pencil to adjust your own range.
For the Proximity to the Nearest Exon Edge: In the Region section, go to the Closest Exon Distance and use negative values to refer to nucleotides within the exon, and positive values to target nucleotides upstream/downstream of the exon.
Case Summary for Tumor Analyses
Precision oncology meets efficiency with Franklin's new feature, the Case Summary, which can be found on the Workbench next to the QC section. Designed to offer a comprehensive perspective on relevant treatments for your cases, this tool is a game-changer in somatic genetic analysis. Based on a detailed analysis of reported variants and other critical biomarkers, the Case Summary curates a complete case-level list of treatment recommendations. Prioritized according to the AMP-ASCO guidelines, these recommendations empower you to make well-informed decisions that can potentially alter the course of patient care.
This panoramic view goes beyond the surface by considering contradictory indications – instances where one variant suggests sensitivity to a drug while another points to resistance. Seamlessly, it calculates and consolidates these conflicting signals into a singular, cohesive indication for each treatment. These smart insights not only save time but also ensure that you have a synthesized, accurate view of the therapeutic options available. Embrace the future of precision medicine with the Case Summary – where data transforms into actionable decisions, and patient care ascends to unprecedented heights.
Other improvements
Enhancements to Internal Frequency Backend: We've made improvements to the internal frequency backend calculations, reducing errors and laying the groundwork for upcoming feature developments. Users can expect a consistent experience as there are no current changes to the user interface.
Updated Variant Nomenclature: To reach a more consistent variant nomenclature system, our team has revised the format of p. and c. for different variant types, which are now in alignment with the HGVS recommendations.
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 |