We are thrilled to share our latest feature update with you. As part of our commitment to improving your user experience, we have made noteworthy enhancements to our Variant Tile Design in the Franklin software. This new design not only revamps the look and feel of the tiles but also incorporates new and improved data points to aid your variant initial assessment process.
General Changes
The gauges in the main graphic have been removed for a cleaner, sleeker design.
We've added "sub-data" for each annotation, offering a deeper perspective of each variant's relevance.
The variant highlights (above the tile) and comments (below the tile) remain unaltered.
No changes have been made to the expanded tile as of now.
SNV and Indel Tile
The suggested AI classification now features a fresh look, presenting classifications through distinct colors and text indications. This new design has been optimized to support colorblind users, making it easier than ever to differentiate between classifications.
A new 'variant details' section has been added, which includes the location, transcript, and type along with the relevant exon number.
Variant Parameters
Our new frequencies section comprises:
Aggregated frequency - includes the aggregated frequency, the total number of Homozygote variants in gnomAD, and the maximum sub-population frequency.
Internal frequency - features the internal frequency along with the number of cases and homozygous variants.
Community frequency (New) - details the number of community cases presenting the variant and the homozygous variants among them.
The Confidence and Prediction sections remain as they are, with aggregated predictions and the most relevant prediction tool scores based on variant effects.
The newly added 'Public Submission Parameter' offers a detailed, graphical representation of the number and distribution of the classifications across multiple sources such as ClinVar, Uniprot, and the Franklin community.
Tile Functionality Changes
The "classify" button is now replaced by a Flag icon, and an NR button has been added on the tile for immediate action.
Previous organization classifications (small flags) have been moved to the top right corner of the tile, while variant labels (WB, NR, report, etc.) are now located at the bottom right.
CNV Tile
New variant details section includes location, size, and zygosity.
The new Dosage Sensitivity Parameter shows the genes Haploinsufficiency (HI) and Triplosensitivity (TS) highest scores.
These new features are designed to improve your workflow efficiency and analytical accuracy.
Still have questions? Reach out to our Support Team, they'll be happy to help!