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. For more details, please refer to the following link. link

Automated interpretation blurb - added an option to automatically generate an interpretation text in the variant classification wizard. This text is based on information extracted from different data sources within the variant pop-up. This enhancement enables users to streamline their interpretation process.
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Somatic & SV Sidebar Interpretation - ability to write the variant classification and interpretation for SV and Somatic variants during the assessment process, utilizing the variant's full detailed view in the sidebar. This facilitates a smoother, more integrated assessment workflow.
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SNV Region Viewer Filters- users can now apply filters to the assessment track (ClinVar/Uniprot/Community) based on the variant's effect. This allows for a more precise determination of the gene's disease mechanism and simplifies the identification of similar variants across the gene.

Furthermore, below the assessment track, we have integrated a table that presents the count of loss-of-function (LOF) variants and their respective classifications. This table provides valuable insights into the upstream and downstream variants compared to the variant itself, as well as the comparison between missense variants in the same exon and the entire gene. These additions further enhance the analysis and interpretation of variants within the gene.
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Gene Expression- The Gene Assessment tab now provides the ability to view new gene expression data, illustrating the distribution of gene expression (median TPM) across different tissue types.
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Gene search - Franklin's gene search functionality has been expanded to include gene-level annotations. You can access comprehensive information about specific genes, including their function, associated conditions, and relevant literature.

SV Highlights - added 'Franklin Highlights' for Structural Variants (SV), similar to those for Single Nucleotide Variants (SNVs). These highlights indicate genes linked to the case phenotype, known to be dosage sensitive, or previously classified in resources like ClinVar/Decipher or within the Franklin community.
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GnomAD annotation -We've improved our gnomAD display with the addition of detailed allele and homozygous counts. The information is accessible by hovering over the gnomAD results in the expanded variant tile.
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Prediction scores filters - added option to filter by the scores of the following tools:

We have incorporated the latest evidence from Ovarian and Prostate guidelines into Franklin somatic clinical database.

Formatting changes to the way we are displaying c.dot and p.dot to better comply with the HGVS nomenclature definitions
Some examples of the changes made:

Synonymous variants:

Show = on alt amino acid in synonymous variants:
Before: OR2T12: c.312A>C: p.Thr104Thr
After: OR2T12: c.312A>C: p.Thr104=
​Frameshift variants:

On frameshifts, show it in the correct nomenclature, including the termination codon position after the first amino acid change
Before: TTN: c.17151_17152insCCACCTCATTGGTCACCCGACACTGGTATTCGCC: p.Ser5718fs
After: TTN: c.17151_17152insCCACCTCATTGGTCACCCGACACTGGTATTCGCC: p.Ser5718ProfsTer63
​Deletions:
Don't show deleted bases in cdots
Before: IL32: c.184_186delTAT: p.Tyr62del
After: IL32: c.184_186del: p.Tyr62del