Franklin Community Corner
Recent events
Applications are open for the Franklin Discovery Research Grant! Submit your research proposal here by August 31st.
Release Notes
We are thrilled to announce our recent updates to Franklin, designed to enhance your experience and streamline your variant interpretation process. Let's dive into the fantastic new features that await you!
Here's what's new in Franklin:
Improvements in Variant Interpretation
Our team has been diligently working to refine the Variant Interpretation process, allowing you to gain more precise insights from genomic variants. The recent additions include:
SNV Region Viewer Filters: Streamline your analysis by using intuitive filters to focus on specific types of variants in the genomic region of interest. This enhancement facilitates the identification of relevant variants, enabling more accurate interpretation.
Improved gnomAD annotations: Enhanced gnomAD display with the addition of detailed allele and homozygous counts. Users can access this information by hovering over the gnomAD results in the expanded variant tile.
New Guidelines for Somatic Classification: For ovarian and prostate cancer, we've incorporated updated somatic classification guidelines to provide you with the most current information for informed decision-making.
Franklin Discovery
With the introduction of Franklin Discovery, you can now derive deeper insights from your genomic datasets. Uncover hidden patterns and accelerate your research and clinical discoveries with this powerful data leverage feature.
Franklin Discovery enables:
Scaleable Queries Capabilities
Enhanced Cohort Studies
Sophisticated Family Analysis
If you'd like to know more about the solution, check out the recorded video of our last Webinar, where we dived deeper into Franklin Discovery and its potential use cases.
If you’re ready to try it yourself (for free!), apply to the Franklin Discovery Research Grant here.
Improved UI on Case Analysis
The user interface now offers more intuitive navigation with separate tabs for "QC" and "Analysis Results", ensuring a clearer distinction. Additionally, the ROH and Whole Genome Viewer are conveniently located on the top right side of the Analysis Results section. We have also relocated the "Manually Add Variant" option to the same section, enabling easier access during analysis.
Furthermore, the case header has been revamped to provide a consistent look across all case tabs. The three dots dropdown menu within the header now houses the main case export and download options, streamlining the process for your convenience. These UI improvements reflect our commitment to continuously refine Franklin and deliver a seamless user experience.
Gene Search
We get the importance of a comprehensive gene understanding in genomics. Our enhanced gene search functionality now allows you to access the wealth of gene-level annotations located on the Gene Assessment tab. Just head to the Search page and enter any gene name to instantly get comprehensive information about it, including its function, associated conditions, and relevant literature.
In addition, our team has also added the Gene Expression widget to this view, showcasing median TPM distribution across different tissue types. That way, either by accessing from a variant or by searching the gene directly, users can get information regarding the expression of the gene on diverse tissues.
Other improvements
ACMG Secondary Findings Update: We have updated Franklin's secondary finding panel to align with the most recent release (version 3.2) of the American College of Medical Genetics and Genomics (ACMG) guidelines.
Sidebar Variant Classification: Now available for all germline and somatic variant types! It’s much easier to write the variant classification and interpretation for SNPs, CNVs, and somatic variants during the assessment process, utilizing the sidebar on the variant's full detailed view.
Filter Variants by Computational Evidence: On the Variants tab, users have now the option to filter by the scores of the following in silico prediction tools: REVEL, BayesDel, APOGEE, MitoTip, and GERP.
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 |