Key New features:
Improved Gene Curation Experience
A new and improved gene curation interface has been introduced. This interface includes additional data points, alongside existing functionality, allowing for richer gene annotations. In the near future, users will be able to utilize these annotations for actions such as filtering variants based on gene characterization.
Two new tabs have been added to the gene popup:
Curated Gene Data: Displays the organization's curated information for each gene, along with the associated curated conditions.
Gene Structure: Includes two tables of the gene transcripts and their information, along with the Exon List of the canonical transcripts.
Changes to Gene Assessment and Access
The curated information has been removed from the Gene Assessment tab. Additionally, the curate gene button has been removed from the variant popup, and the gene curated tab will soon be accessible from there as well. Currently, users can access the new gene tabs from the gene popup or by searching for the gene symbol in the search app or from the Genes Organization knowledge base.
Read more about the new Gene Curation here.
Genotype-Phenotype Association Enhancements
Improvements have been made to the genotype-phenotype association to enhance accuracy and reliability.
Short Tandem Repeat Expansions
Confidence logic calculation has been added for STRs.
Germline Biomarker (UPD & SMN) Reporting
Franklin now allows users to report Germline Biomarkers, including Uniparental Disomy (UPD & SMN), providing enhanced capabilities for genetic analysis and reporting.
Added API to download sample coverage report csv