Release notes¶

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If you would like to be involved in user acceptance testing (UAT), please let us know by contacting the Service Desk.

The New Interpretation Browser (4.3) is available in Production¶

On 3rd December, we have released an update to the New Interpretation Browser (New IB), which launched six months ago. This version provides support for STRs, meaning all GMS cases are now supported and can be analysed in the New IB going forward.

The New IB is an improved product, co-created by GEL, GLHs and NHSE, for the interpretation of Rare Disease (RD) WGS cases, as part of the Genomic Medicine Service (GMS).

Why¶

The New IB aims to close the key gaps and pain points of existing interpretation products, and more efficiently and comprehensively address all the ”must-have” user needs of RD interpretation. The vision is to create a truly seamless clinical workflow for Clinical Scientists, for maximum patient benefit.

Scope¶

This release builds on the earlier releases and provides support for ALL GMS cases, as STRs are now supported. Previously, only cases with tiered SNVs and/or tiered CNVs (not tiered STRs) were being dispatched to the New IB and made available to Clinical Scientists for review. All variant types are now supported in the New IB.

We also introduce numeric tiering nomenclature for CNVs (for cases processed post this update), moving away from the alphabetic system for tiered CNVs. Tier A and Tier B CNVs will now display as Tier 1 and Tier 2 in the New IB, respectively, for consistency with the nomenclature system used for SNVs and STRs. zs

Finally, we have also introduced cyclical, automated updates of OMIM data (at the point of the New IB release). The OMIM data version currently loaded to support interpretation in the New IB is of November 2025.

Overview of Changes¶

Introducing support for STRs - users can review, classify/exclude STRs, inspect STR pile-up plots and report back any case with tiered STRs
Introducing a numeric tiering system (Tier 1, Tier 2) for CNVs - moving away from the alphabetical (Tier A, Tier B)
OMIM update - now updated to Nov 2025 version - with future updates happening at the time of the New IB release (cyclical, automated updates in place now)
Re-wording the UPD warning at case-level to minimise confusion & updated the linkouts to the RD pipeline user guide (genome analysis guide) in app
Added "Tier" and "Regions" column (from PanelApp/ClinGen) onto reporting page tables, for additional context
General bug fixes (including previous known issues)

Value to Clinical Scientists¶

Ability to review, interpret & report any GMS case in the New IB (all variant types now supported)
Ability to quickly see the number of tiered STRs prioritised by the pipeline
Updated gene-disease information (OMIM), for "as accurate as possible" information available at the point of analysis - maximising diagnostic yield potential
Reduced user confusion - consistency of tiering nomenclature across all variant types
Improved UX, usability and accessibility

Access¶

User access is explained in our Help page. Please contact Service Desk if you don’t yet have access to the New IB. All Clinical Scientists that currently have access to existing RD interpretation products were granted access to the New IB via their smartcard and can login using those credentials, in both UAT and Production.

Training and User Documentation¶

A training session will be scheduled and recorded ahead of the Production release. Keep an eye out for the date! You can access this and any existing training resources from previous releases via our Training page.The training resources will be updated to reflect the 4.3 release following the training session. The User Guide has also been updated with the content of this release.

Limitations & Known Issues¶

A full list of product limitations and mitigations/recommendations is available in our Limitations page. Any current notable bugs are also reported in our Known Issues page.

Providing feedback on priorities¶

To help us make the product better for you, you can use the product roadmap to vote on features you’d like to see prioritised and submit ideas if anything is missing to help you use the New IB. We value your input!

Release 4.2.0 (22nd October 2025)

The New Interpretation Browser 4.2 is available in Production¶

On 22nd October, we have released an update to the New Interpretation Browser (New IB), which launched five months ago. This version provides support for CNVs, expanding the GMS case pool (~77%) that can be viewed and interpreted in the New IB.

The New IB is an improved product, co-created by GEL, GLHs and NHSE, for the interpretation of Rare Disease (RD) WGS cases, as part of the Genomic Medicine Service (GMS).

Why¶

The New IB aims to close the key gaps and pain points of existing interpretation products and more efficiently and comprehensively address all the must-have user needs of RD interpretation. The vision is to create a truly seamless clinical workflow for Clinical Scientists, for maximum patient benefit.

Scope¶

This release builds on the earlier updates and increases the GMS case pool (~77%) that can be viewed and interpreted in the New IB, as CNVs are now supported. Previously only cases with tiered SNVs (and no tiered CNVs nor tiered STRs – representing ~18% of GMS cases) were available in the New IB. STRs will be supported in a subsequent release.

We also introduce the archiving of closed cases and cases that haven’t been looked at for more than 16 weeks, to preserve system stability and performance. Users can easily self-serve and restore the archived cases, making them available once again for review in as little as 5 mins.

Value to Clinical Scientists¶

Ability to review, interpret & report a growing number of cases
Ability to quickly see the number of tiered CNVs prioritised by the pipeline
Aid with completing interpretation – quickly spot when mandated variants haven’t been reviewed
Increased understanding of the gene-phenotype association reported by Exomiser
Improved UX, usability and accessibility

Overview of Changes¶

CNVs¶

Introduction of a CNV variant list page, where key annotations for CNVs can be reviewed (e.g. Tier, impacted PanelApp genes & regions, number of coding genes, exonic status, known OMIM diseases, AFs, etc)
Ability to classify/exclude and report CNVs, as per current process followed for SNVs
Count of CNV tiered variants added to the Prioritisation summary in case summary page

SNVs¶

Added the phenotype match between patient HPO terms and Exomiser’s phenotype information onto the SNV details page, along with its origin – i.e. the phenotype resource (e.g. OMIM, Orphanet, MGI, etc) in which the match was made
Improved ClinVar column display, when too many entries exist

All variants¶

Updated the logic for green gene coloring to utilise the latest evidence from PanelApp panels (at time of case ingestion) instead of applied GMS panels
Introduction of a counter of “Tiered variants requiring interpretation” in the reporting page & improved page layout
HPO terms shown are now only those marked as “Present” in test order form (as opposed to including “Unknown” and “Absent” terms)
General bug fixes (including previous known issues)

Access¶

Training and User Documentation¶

Two training sessions were held prior to release, covering the same material. You can access this and any existing training resources from previous releases via our Training page. The User Guide has also been updated with the content of this release.

Limitations & Known Issues¶

A full list of product limitations and mitigations/recommendations is available in our Limitations page. Any current notable bugs are also reported in our Known Issues page.

Providing feedback on priorities¶

Release 4.1.0 (23rd July 2025)

Release 4.1.0 (23rd July 2025) - The New Interpretation Browser is available in Production¶¶

Today, 23rd July, we have released an update to the New Interpretation Browser (New IB), which launched two months ago. This version continues to support SNV-only cases (i.e. those without tiered CNVs nor tiered STRs).

The New IB is an improved product, co-created by GEL, GLHs and NHSE, for the interpretation of Rare Disease (RD) WGS cases, as part of the Genomic Medicine Service (GMS).

Why¶

Scope¶

This second iteration builds on the earlier release (May 2025) and focuses on greater transparency and explainability, with special highlight for the breakdown of patient HPO terms that were utilised vs non-utilised by Exomiser as part of scoring. Please see below for an overview of all notable changes.

Value to Clinical Scientists¶

Complete audit trail: record of all software and versions used to process the case at pipeline & interpretation level
Greater transparency: complete snapshot of the prioritisation results coming from all prioritisation methods (i.e. Exomiser) and not just tiering
Increased traceability: “source” of tiering event is now displayed to flag variants that are known pathogenic in ClinVar/CVA
Improved explainability for Exomiser (no-black box behaviour), with understanding of HPO terms utilised as part of scoring and variant annotations considered by the tool
Improved UX, usability and accessibility

Overview of Changes¶

Complete Software & dataset versions cards: variant callers, Ensembl & Exomiser software versions & datasets added
Expanded Prioritisation summary card: number of variants with relevant Exomiser scores (i.e. ≥ 0.75) provided alongside the tiering summary
Added the Source of the tiering outcome to the tiering overlay, to indicate when variant is tiered due to being known pathogenic ClinVar/CVA variant
Exomiser results (all scores & rank) added to the variant details page
Evidence used by Exomiser for scoring provided: variant & phenotype fit (matched vs non-matched patient HPO terms)
IGV link moved onto the variant grid itself, for direct access
Classify button moved to leftmost column of variant grid, for easier access
Excluded variants now in separate table in reporting page, for clarity
Patient, clinical and family info now added to reporting page
General bug fixes (including previous known issues)

Access¶

Instructions for access to Production can be found in our Help page. Please contact Service Desk if you don’t yet have access to the New IB in Production. All Clinical Scientists that currently have access to existing RD interpretation products were granted access to the New IB via their smartcard.

Training and User Documentation¶

A 30 min release 4.1 demo will happen on Thursday 24th (12-1pm, with 30 mins for questions). The demo will be recorded and added to the Educational sessions folder in NHS Futures, for the New IB. This link can also be found on the Training section page. The User Guide has also been updated with the content of the release.

Limitations & Known Issues¶

A full list of product limitations and mitigations/recommendations is available in our limitations page. A list of any open issues (bugs) that you should be aware of, is also provided in our Known Issues page.

Release 4.0.0 (28th May 2025)

Release 4.0.0 (28th May 2025) - The New Interpretation Browser is available in Production¶

Today, 28th May, we have released the first slice of the New Interpretation Browser (New IB) into the production environment.

The New IB is an improved product, co-created by Genomics England, GLHs and NHSE, for the interpretation of Rare Disease (RD) WGS cases, as part of the Genomic Medicine Service (GMS).

Why¶

Scope¶

This first iteration focuses on the support of small variants, allowing you to complete interpretation and reporting of RD cases that do not have tiered CNVs nor tiered STRs (~18% of past GMS cases, for reference).

Feature Overview¶

Open your case in the New IB via the Interpretation Portal (IP)
Review the case and clinical context ahead of interpretation
Review the variants prioritised by the Genomics England Rare Disease pipeline
Record your interpretation evidence, assign classification and select variants for reporting
Close your case in the New IB, knowing that all the relevant interpretation data will be saved onto CVA as usual, without the need to complete the Exit Questionnaire in the IP
Access your case’s Summary of Findings in the IP, as usual

Value to Clinical Scientists¶

Minimised unnecessary work: Less clicks, more data visible in one go, less need to visit external sources for information
Shorter interpretation journey: Swift classification and selection of variants to report, with no need to complete the Exit Questionnaire prior to closing off cases
Improved user experience: Faster navigation and responsiveness, with optimised layout of data to better aid interpretation
Full traceability of interpretation changes: Variant and case audit logs available for auditing purposes
Enriched annotations to improve efficiency of interpretation: e.g. gene-disease information, MANE & Refseq transcripts, variant inheritance, additional Exomiser scores and information

Access¶

All Clinical Scientists that currently have access to existing RD interpretation products will be granted access to New IB via their smartcard, on launch day.

Training and User Documentation¶

Training sessions to introduce you to New IB are scheduled for the following dates:

23rd of May (12-1.30pm)
3rd June (12-1.30pm)
12th June (12-1.30pm)

Email invites will be sent in due course. If you have any queries, or you do not receive the invite, please reach out to Rachael Mein or Eva Serra.

User documentation will be presented and distributed following the training sessions.

Limitations¶

A full list of limitations and mitigations/recommendations will be made available during the training sessions. These are documented in the Limitations page.

Known Issues¶

Known issues are documented in the known issues page.

Bugfixes & Improvements¶

As this is our first release into production, we don’t yet have any fixes or improvements to share here. Keep an eye on this list in subsequent releases!

Abbreviations

Abbreviation	Definition
ACGS	Association for Clinical Genomic Science
ACMG	American College of Medical Genetics and Genomics
CDS	Coding DNA Sequence
CNV	Copy Number Variant
CVA	Clinical Variant Ark
New IB	New Interpretation Browser
GEL	Genomics England
GMS	Genomic Medicine Service
GLH	Genomic Laboratory Hub
HGVS	Human Genome Variation Society
HTML	Hyper Text Markup Language
HSCN	Health and Social Care Network (N3)
IGV	Integrative Genomics Viewer
IP	Interpretation Portal
NGIS	National Genomics Informatics System
PID	Patient Identifiable Data
QC	Quality Control
SO	Sequence Ontology
SNV	Single Nucleotide Variant
SV	Structural Variant
TOMS	Test Order Management Service
UAT	User Acceptance Testing
VCF	Variant Call Format File
WGS	Whole Genome Sequencing