Gene Curation Tab Added to Variant Popup

Franklin now includes the Gene Curated Data Tab in the variant popup and search workflows. This enhancement allows users to view all organization-curated data for a gene, improving the variant curation process. The data is view-only; to edit, users can click the "Curate Gene" button to open the gene for curation.

Knowledge Base Performance

The system's performance has been optimized to handle significantly larger datasets, including variants, genes, and panels. These improvements ensure smoother operation and faster response times for large-scale analyses.

Manual Addition of Genes to the Knowledge Base

Franklin now enables the manual addition of genes to the organization’s database. While gene normalization is not yet supported, this functionality will be introduced in a future version.

Somatic Analysis Enhancements

Somatic analysis results can now be filtered based on the organization’s previous germline classifications. This update enhances the analysis workflow by leveraging existing classification schemas.

Custom Genes Analysis

Gene names are now displayed directly in single-gene panels in the Workbench, replacing the previous “custom gene panel” label. This update improves clarity and provides immediate access to essential information.

Gene Curation: References

References can now be added to gene curation in Franklin, enhancing the documentation and validation of curated information.

Organization-Curated Conditions in Associated Conditions Tab

Organization-curated conditions are now displayed in the Associated Conditions Tab. In an upcoming release, users will also be able to curate associated conditions directly within this tab.

CNV Array Nomenclature

Franklin now supports the International System for Human Cytogenomic Nomenclature (ISCN) for CNVs in CMA cases. Array nomenclature is displayed directly on variant tiles within CMA cases.