Click here to read more about VarSome & VarSome Clinical 13.17.2.1 released on 2 July 2026

Click here to read more about VarSome & VarSome Clinical 13.17.2.0 released on 25 June 2026

Click here to read more about VarSome Clinical 13.17.1.3 released on 19 June 2026

Click here to read more about VarSome Clinical 13.17.1.2 released on 10 June 2026

Click here to read more about VarSome Clinical 13.17.1.1 released on 8 June 2026

Click here to read more about VarSome and VarSome Clinical 13.17.1.0 released on 28 May 2026

Click here to read more about VarSome Clinical 13.17.0.0 released on 23 May 2026

Click here to read more about VarSome 13.17.0.0 released on 27 April 2026

Version 13.17.2.1 of of VarSome and VarSome Clinical was released on 2 July 2026.

• Fixed an issue affecting variant classifications involving the PP3 and BP4 criteria.

• Fixed an issue affecting algorithmic filters results when "Strong VUS" option is disabled.

Version 13.17.2.0 of of VarSome and VarSome Clinical was released on 25 June 2026.

Summary of Key New Features

• Fixed incorrect UTR and CDS boundary calculations for CNVs affecting single-exon genes.

• Resolved an inconsistency where VarSome.com and the VarSome API returned differing responses for the same variant.

• Enhanced the ClinVar card to show all available submissions.

• Fixed the user classification filter in fusion analysis to correctly report zero fusions when no user classification is assigned.

• Fixed a minor issue where sample information displayed all associated files instead of only the file used to run the SV or main VCF analysis.

• Fixed minor issue where IGV Browser was not loading for specific group analyses on CH server.

• Fixed an issue where the Zygosity column was not displayed in the SV table when launching a structural variant VCF from Oxford Nanopore Technologies, PacBio, or short-read sources that included zygosity information.

• Fixed broken DISGENET links on Gene cards and Fusion GDB entries.

• Minor improvement to the ReadPosRankSum filtering thresholds for indels that improves precision in rare edge cases.

• Updated Genozip utility to version 15.0.71 to include mandatory license renewal, ensuring continued service stability and performance consistency.

Version 13.17.1.2 of VarSome Clinical was released on 10 June 2026.

Summary of Key New Features

• Fixed an issue where adding a phenotype failed for non-CNV multi-sample analyses.
  
  

Version 13.17.1.1 of VarSome Clinical was released on 8 June 2026.

Summary of Key New Features

• Fixed an access control issue where users with no role or with "view all samples" permission could not directly access CNV analysis results.
• Resolved a server performance issue that could cause the system to freeze.

Version 13.17.1.0 of VarSome and VarSome Clinical was released on 28 May 2026.

Summary of Key New Features

• Improved sample selection when launching CNV analysis from FASTQ files by introducing an override permission, allowing authorised users to select any sample, including samples not assigned to them.
• Fixed an issue where reselecting the same classification in the CNV Gene/Regions Overlap rule incorrectly changed the overall variant classification.
• Fixed a minor issue that prevented users from inserting spaces when typing multi-word HPO terms into an existing analysis.
• Improved report downloads for secondary findings, which previously generated empty reports in some cases.
• Fixed an issue where Agilent UMI analyses failed after read trimming for Element FASTQ files.
• Improved Current Annotation functionality by disabling it for unsupported structural variant types, including insertions, inversions, and breakends.
• Fixed a minor issue with the Somatic Tier filter in Variant Explorer.
• Improved the De Novo Strict filter behaviour when applied from VCF by disabling it, as parental coverage data cannot be guaranteed.
• Improved somatic analysis filtering by introducing new OncoKB filters.
• 24 updated databases  (full list of databases):
  

Version 13.17.0.0 of VarSome Clinical was released on 23 May 2026.

Summary of Key New Features

• Variant Explorer, a new cross-sample query tool that allows users to search for variants across all samples within their organization from inside VarSome Clinical.
• Sample phenotypes are now available in the SV/CNV table, helping users identify which SVs and CNVs overlap with genes linked to the sample’s phenotypes.
• Beta version of the redesigned filtering experience, introducing new filter options and AND/OR logic for more flexible, multi-layered variant filtering.
• Pfam domains are now available within Fusion visualization, helping users assess which protein domains are retained, lost, or disrupted by a fusion breakpoint.

New Features

Variant Explorer

VarSome Clinical now includes Variant Explorer, a cross-sample query tool that enables users to search for variants across all samples within their organization. It is currently available upon request for EU and US instances.

Variant Explorer is accessible from the VarSome Clinical top menu once enabled by the support team. It is available at group level and allows users to query variants across organizational samples using a wide range of criteria, including chromosome and genomic position, ClinVar classification, germline classification and ACMG rules, somatic tier and AMP rules, gene lists, internal lab classifications, sample phenotypes, phenotypes associated with overlapping genes, allelic balance, coverage, zygosity, coding impact, and gene mode of inheritance.

Results are displayed in a structured table, with one row per variant. For each variant, users can see how many samples in the organization contain it. If a variant appears in more than one sample, users can expand the result to review each occurrence individually and open the corresponding analysis directly from the results view. For multi-sample analyses, such as family trios or cohorts, the result is shown under the specific sample where the variant was found, helping preserve the original analysis context.

By making accumulated variant data searchable across samples, Variant Explorer helps laboratories move beyond one-sample-at-a-time review and use their existing data more effectively for recurrent variant review, gene-focused investigations, phenotype-driven searches, and batch triage workflows.

Sample phenotypes added to the SV/CNV table

Sample-associated phenotypes are now displayed in the SV/CNV table, making it easier to connect structural findings with the clinical presentation of the case.

When phenotypes are added to a sample, a new column in the SV/CNV table shows how many of those sample phenotypes are linked to the genes overlapping with each SV or CNV. This functionality was already available for small variants and has now been extended to CNV/SV results from WES, WGS, and VCF analyses.

This helps users focus more quickly on SVs and CNVs that may be relevant to the patient’s phenotype, while deprioritising findings that are not linked to the sample’s clinical presentation. For WGS CNV analysis from FASTQ, this can also be used together with the Delly shortcut filter to focus on higher-quality, well-supported CNVs and reduce noise during interpretation.

Beta version of the new AND/OR filtering logic and filter options

This release introduces a beta preview of the redesigned filtering experience, built to support more flexible and precise variant filtering through new filter options and AND/OR logic.

Users can now create more complex filter rules by defining how different conditions should relate to one another. For example, they can narrow results by requiring variants to meet multiple conditions at the same time, or broaden their search by retrieving variants that meet one condition or another. This makes it possible to build more precise, multi-layered queries that better reflect real analytical and clinical review workflows.

Together with the new filtering options, this gives users greater control over how they refine variant results during review, whether they are focusing on clinically relevant findings, reviewing a specific subset of variants, or applying more complex inclusion criteria during analysis.

In this first beta phase, the new filtering logic is stored locally in the browser and is scoped to the specific analysis page where it was created. These filters are not yet stored server-side, meaning they cannot currently be saved, named, or shared across users or devices. The existing filter set functionality remains available and unaffected during this transition. In a future release, previously saved filter sets are expected to be migrated to the new AND/OR model, allowing users to continue working with existing filters while benefiting from the new logic-based interface.

Pfam domains available within Fusion visualization

Fusion visualization now includes Pfam domain annotations, giving users a clearer view of the potential functional impact of fusion events.

Users can now see which protein domains are retained, lost, or disrupted by the fusion breakpoint directly within the visualization. This helps bring functional context into the interpretation workflow and supports faster assessment of clinically relevant fusion events.

The visualization also provides access to InterPro-Pfam protein and domain details, helping clinicians and researchers investigate the affected domains more efficiently and interpret the possible consequences of the fusion with greater confidence.

Minor Fixes and Additions

• MSI/TMB RUO label removed: TMB and MSI calculations are now part of the IVDR product, supporting their use as standardised biomarkers within the VarSome Clinical workflow.
• Framework for multiple population frequency databases: Frequency databases in the Frequencies table, including sources such as Bravo and Kaviar, are now displayed in a unified table. This provides a more consolidated view of population frequency information across multiple databases.
• TMB and MSI added for Twist Oncology DNA CGP regression testing: TMB and MSI support has been added for Twist Oncology DNA CGP regression testing. Related application note wording should be updated where it previously described this as RUO.
• New MisFit score integrated in dbNSFP 5.3: The MisFit score has been added through the dbNSFP 5.3 integration, expanding the available annotation data for variant assessment.

Version 13.17.0.0 of VarSome was released on 27 April 2026.

Summary of Key New Features

• Users can now visualize Protein family (PFAM) domain annotations directly within the Fusion Details card, providing structural context for assessing possible functional impact for fusion events at a glance.
• Two new predictive scores from dbNSFP version 5.3 are now available in the in-silico predictor card: MisFit and popEVE.
• Users with COSMIC license can now visualize a table listing all alternative transcripts associated with the selected variant, and a new section surfaces detailed COSMIC sample-level occurrence data for the variant, including metadata for each reported sample.
• Fixed an issue where the 'Gene/Regions overlap' rule was not consistently identifying haploinsufficiency (HI) and loss-of-function (LOF) genes within the overlapping region.
• Fixed an issue where CNV losses affecting the last exon of a gene did not consistently check for other established pathogenic variants reported in that exon.

Support

We hope you find these improvements helpful. We would love to hear any feedback and suggestions you may have. Support is available as usual from support@varsome.com.

The VarSome Team.