Release Notes¶

Tip

To receive notifications of upcoming releases, please subscribe to updates via status page. Each release will be deployed to the user acceptance testing (UAT) environment for a minimum of 1 week prior to deployment to the production environment. During this time, users can explore new features and submit any feedback they have.

Release 6.7.0

Updates

High resolution germline coverage plots are now available
We have switched from displaying gnomAD genomes to gnomAD exomes data for somatic small and germline small variants in line with the HTML WGA
The link out to cancer hotspots is now variant specific
We now display allele depth on the structural and copy number variant list and structural variant details page, a measure of confidence for FLT3 internal tandem duplications called by Pindel
Changes to comment behaviour
Bug fixes

Release 6.6.0

Updates

All variants now have a link out to the Decipher gene browser from the Variant Details Page
The cDSS has been updated to support cases processed following the update to Dragen v4
The cDSS plots have been updated to visualise likely sub-clonal variants
The cDSS will display new internal population frequencies for somatic and germline small variants
The cDSS will display a new single SV PON frequency for Dragen v4 cases
The cDSS will display case warnings specific to Dragen v4 cases
The cDSS has been updated to support DUX4 fusions following the addition of Pelops to the cancer bioinformatics pipeline
The cDSS structural variant list has been updated to display new data points associated with DUX4 fusions
The cDSS structural variant plots have been updated to display DUX4 fusions with ambiguous breakpoints

Dragen v4

PLEASE NOTE: following the pipeline upgrade to Dragen v4, some findings are not UKAS accredited to ISO 15189. Dragen v4 software for calling somatic copy number variants (CNVs) and Pelops algorithm for identifying DUX4 rearrangements are not currently included in the schedule of accreditation issued by UKAS. Please refer to the schedule of accreditation for more information.

Release 6.5.0

Updates

Somatic small variants can now be sorted by VAF on the somatic small variant list
The interpretation drawer for somatic small, germline small and somatic structural and copy number variants have now been updated to capture:
Variant actionability
Reasons why a variant is an artefact
Standard Of Care validation assays

Release 6.4.1

Updates

Hotfix to update loci file, see known issues for further details

Release 6.4.0

Updates

High resolution somatic coverage plots are now available
Somatic small and germline small variants have a link-out to SpliceAI
Genes have a link-out to The Cancer Genome Atlas from the variant details page
Bug fixes

Release 6.3.0

Updates

IGV link outs to both variant coordinates are now included for structural variants with more than one coordinate e.g., translocations
Bug fixes including correctly displaying the variant type for internal tandem duplications

Release 6.2.0

Updates

Variants can now be filtered by their mode of action. Further details for somatic small, somatic structural and copy number and germline small variants can be seen under the "Filters" and "Applying Filters" tabs
Variants link out to specific entries in Varsome from the variant details page for somatic small, somatic copy number and germline small variants
Useful Resources for structural variants include a link out to the Varsome home page
Genes have a link-out to My Cancer Genome from the variant details page
The Cellbase version and the Cancer Tiering Pipeline Version are now displayed in the case summary under "Additional Information"

Release 6.1.0

Updates

We have implemented accessibility changes including changes of text colour, additional attributes for screen readers, re-styling focus, hover and click states for interactive elements and re-positioning some page elements to facilitate user experience, colour contrast and colour blindness support
The structural and copy number variant list are now using the latest GEL population frequencies
We have added our UKAS accreditation to the cDSS

Release 6.0.0

Updates

We have removed the coupling of Biological Classification and AMP tier when adding variant interpretations
The functionality to download a PDF export has been removed from the export preview page
The cDSS can now support multiple analyses under a single referral, therefore a unique case id is used in the URL for each referral For backwards compatibility, the case summary page will redirect from any old referral id to the new case id
Bug fixes including CNV and SV sizes shown in BP instead of KB

Info

Variant filtering for reported variants in tumour first cases in the cDSS may differ from that in HTMLs: in these cases, we apply both somatic and germline prioritisation algorithms to all variants with GEL internal population germline allele frequency under 2%, so all such variants will appear on the cDSS. In the HTMLs and CSV tables, all variants with either GEL internal or gnomAD population germline allele frequency over 1% and no potential effect on cancer predisposition genes (nothing in the "Interpretation as germline" field) are filtered out. We are currently working on fully harmonising the variant lists between cDSS and HTML, and this discrepancy should disappear soon.

Release 5.1.2

Updates

Bug fixes including fixing the redirection from the IP to Case Summary Page when opening a case

Release 5.1.0

Updates

Structural and copy number variants can now be filtered by size
Structural variants can now be filtered by supporting reads e.g., a minimum number of paired or split reads
Structural and copy number variant plots can now be moved up and down
Link outs to resources such as MSK Impact, Genie and Mitelman Database have been added to the variant details pages for somatic small, somatic structural and somatic copy number variants
Structural and copy number variant plot error message are now specific to the relevant visualisation
Bug fixes including the classification options available to TINC cases

Release 5.0.0

Updates

Case statuses are now integrated with the IP, please see Case Management for further details
Cancer Hotspots are available in the somatic small variant details page
The patient header has been condensed to maximise page space
Improvements to the germline BAF plot makes regions with no coverage easier to distinguish from LOH regions (e.g. resulting from UPD)
8 Bug Fixes including a fix to the SV plot - arcs will now readjust on the y-axis when zooming in

Release 4.5.0

Updates

Germline CNVs are visible in the case summary table
7 Bug Fixes

Release 4.4.0

Updates

Updated to use the new National Genomic Test Directory
Fixed link to the User Guide
Ability to mark variant as an artefact during Variant Interpretation
Moved variant list tabs to the main menu
6 Bug Fixes including the population frequency round off in the variant list

Release 4.3.0

Updates

New case warning for unaccredited sample types
Colour updates for the Coverage Depth, B-allele frequency and Copy Number plots
Gene plots are now available in full screen mode
14 Bug Fixes

Last update: 2025-03-11