2025 Release Notes¶
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Release 6.14.0¶
Release date: December 3, 2025
Updates
- The resolution of the coverage plots has been improved
- New HGVS and MNV small variant annotation limitation alert included in small variant lists
- Colours have been updated to more easily distinguish the different biological classifications assigned to variants in the variant lists and GTAB summary (including the PDF version)
- Bug fixes
Release 6.13.0¶
Release date: October 22, 2025
Updates
- The visibility, categorisation, and coverage of alerts, warnings, and disclaimers have been improved - they now occupy less space on screen, remain easy to find and read, and appear on more pages to provide better context where needed
- Comments can be added to the circos plot
- The circos plot can be added to the GTAB summary page and the PDF version of the GTAB summary
- Colours have been updated to more easily distinguish the different types of structural and copy number variants on the variant lists and variant details pages, as well as in the structural variant, BAF, coverage, and absolute allele count plots
- Archived cases can now be restored directly from the DSS
- Bug fixes
Release 6.12.0¶
Release date: September 24, 2025
Updates
- Germline copy number variants can be analysed in the DSS and added to the GTAB summary (including the PDF version) for cases ingested after 6.12.0 release
- Transcript overlay available from the variant lists
- Bug fixes
-
Gene mode of action colours have been updated
Mode of action Colour Oncogene Pink Tumour suppressor Blue Ambiguous Purple Unknown Grey
Release 6.11.1¶
Release date: August 5, 2025
Updates
Release 6.11.0¶
Release date: July 23, 2025
Updates
- Mutational signature analysis and tumour mutational burden plot images included in the the PDF version of the GTAB report
- The PDF version of the GTAB report can be generated with one of two statuses: Draft (pre-GTAB) or Final (after GTAB)
- Tumour and germline BAF plots resolution has been improved, now raw BAF data can be seen (plots available in the somatic SV and CNV variant list)
- Bug fixes
Release 6.10.0¶
Release date: June 25, 2025
Updates
- Actionability and usability options and comments can be added to mutational signature analysis and tumour mutational burden plots
- Mutational signature analysis and tumour mutational burden plots can be added to the GTAB report
- Mutational signature analysis and tumour mutational burden plots can be added to the PDF version of the GTAB report
- Variant annotations related to the SVIG canonical variant list will be available on the somatic small variant list when NGIS release Petra goes live (see Cancer Genome Analysis Guide for more information when NGIS release Petra goes live)
- Bug fixes
Release 6.9.0¶
Release date: May 28, 2025
Updates
- MANE Select and MANE Plus Clinical transcript flags are now available
- RefSeq transcripts for MANE transcripts only are now available (due to a known issue, RefSeq transcripts are only visible on the somatic and germline small variant lists and detail pages)
- The most severe predicted consequence type, along with the RefSeq or Ensembl transcript and protein identifiers most severely affected by a variant, will now be shown by default on the variant grid of the somatic and germline small variant lists
- Variant annotations related to the SVIG canonical variant list will be available on the somatic small variant list when NGIS release Petra goes live (see Cancer Genome Analysis Guide for more information when NGIS release Petra goes live)
- Some cases can appear as archived in the DSS, please see Case Management for further details
- Archived cases can be de-archived by raising a ticket via the Genomics England Service Desk
- The Global Analysis page has been slightly reformatted to improve the structure of the page and user experience when interacting with the plots
- Bug fixes
Release 6.8.0¶
Release date: April 30, 2025
Updates
- GTAB report
- Add variants and their interpretation to GTAB report from variant lists and interpretation drawer
- Edit variant interpretation from GTAB report
- Add GTAB comments to variants
- Export GTAB report to a PDF
- Closing a case on the DSS will also close the case on the IP
- Bug fixes
Release 6.7.1¶
Release date: April 11, 2025
Updates
- Dragen CNV caller is now mentioned in Variant List Somatic SV CNV section
- Known Issues list has been updated
Release 6.7.0¶
Release date: March 19, 2025
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¶
Release date: February 5, 2025
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¶
Release date: January 15, 2025
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