Click here to read more about VarSome Clinical 13.18.1.0 released on 30 July 2026

Click here to read more about VarSome Clinical 13.18.0.0 released on 25 July 2026

Click here to read more about VarSome 13.18.0.1 released on 9 July 2026

Click here to read more about VarSome 13.18.0.0 released on 9 July 2026

Version 13.18.1.1 of VarSome Clinical was released on 4th August 2026.

• Fixed an issue affecting CNV analyses; ExomeDepth failures now correctly stop the analysis before annotation.

Version 13.18.1.0 of VarSome and VarSome Clinical was released on 30th July 2026.

Summary of Key New Features

• Added support for Roche's Unique Molecular Identifiers (UMIs) for KAPA assays, broadening VarSome's clinical support to assays using UMIs.
• The Human Protein Atlas card now displays RNA cancer-specific pTPM (protein-Transcripts Per Million) information.
• Variants with zygosity 0/0 are now removed and no longer displayed in the variant table.
• 33 updated databases  (full list of databases):

Version 13.18.0.0 of VarSome Clinical was released on 25th July 2026.

Summary of Key New Features

• VarSome Picks now runs automatically whenever phenotypes are provided for single sample germline and family trio germline analyses.
• Agilent SureSelect MAX/MGI MAX assay is now supported for both Illumina and MGI.
• Users can bulk input or copy–paste any mix of OMIM, HPO or MONDO identifiers, or full phenotype terms, directly into the Sample Phenotypes field in one action.
• Japanese and Korean population frequency databases are now integrated.
• TMB and MSI calculations are now available in untargeted mode.

New Features

VarSome Lighthouse

VarSome Lighthouse, an on-demand, highly constrained LLM has now been integrated into the VarSome Premium UI (sliding drawer). The model instantly synthesizes scattered genomic evidence into a cohesive, report-ready clinical narrative in the user’s preferred language, drastically reducing the time and effort required for variant interpretation. VarSome Lighthouse is available in 7 languages: English, Spanish, French, German, Italian, Portuguese, and Greek.

VarSome Lighthouse processes only the explicit data available on the variant card, including automated germline criteria, gene biology, population frequencies, and curated literature.

To ensure absolute clinical safety and trust, the system uses strict foundational prompting to eliminate LLM independence, guaranteeing zero external data hallucinations. This allows users to confidently copy-paste comprehensive summaries into their workflows.

VarSome Picks will run automatically when phenotypes are provided

VarSome Picks will now run automatically when phenotypes are provided for single sample germline and family trio germline analyses. This means clinical and research teams gain immediate, AI-driven variant prioritization without additional manual steps.

By tying Picks directly to phenotype input, the platform delivers contextually relevant results from the moment an analysis begins, reducing interpretation time, minimizing the risk of overlooking candidate variants, and keeping the workflow seamlessly integrated. This makes phenotype-driven variant discovery faster and more intuitive, making it easier for teams to consistently leverage one of VarSome's most powerful features.

If phenotypes are entered during the sample definition step, Picks will run as part of the initial analysis. If phenotypes are added after the analysis has completed, Picks will trigger automatically on that input event. No manual action should be required from the user in either case.

Support for Agilent SureSelect MAX/MGI MAX

We now support the Agilent SureSelect MAX/MGI MAX assay for both Illumina and MGI.

Agilent SureSelect MAX and MGI MAX represent a robust solution for high-sensitivity next-generation sequencing applications requiring accurate variant detection at low allele frequencies. By integrating Unique Molecular Identifiers (UMIs) directly into the hybridization capture workflow, these kits enable effective PCR duplicate removal and sequencing error suppression without the need for additional library preparation steps.

Bulk input and copy–paste of multiple HPO terms

Users can now paste any mix of OMIM, HPO, MONDO identifiers or full phenotype terms directly into the Sample Phenotypes field in one action. The system automatically parses the content, recognizes individual IDs separated by commas, spaces or line breaks, and adds all valid entries instantly. Users will receive immediate visual feedback highlighting IDs that were successfully added and those that were unrecognised. Previously added phenotypes are preserved, so users can build up phenotype profiles incrementally without risk of overwriting prior work.

By moving from repeated manual lookups to a single paste action, complex phenotype entry becomes less time-consuming and omission errors are reduced.

ToMMo JMorp and KRIBB KOVA frequency databases integration

The ToMMo JMorp and KRIBB KOVA external frequency databases have now been integrated into the VarSome platform, significantly expanding our population allele frequency coverage and enabling more accurate and comprehensive variant interpretation across a broader range of populations. By incorporating these partner datasets alongside existing resources, VarSome reduces gaps in frequency data that can otherwise lead to misclassification of variants, particularly for underrepresented or non-European populations where reference data has historically been sparse.

This integration directly strengthens the clinical and research utility of VarSome, giving users richer context when assessing variant pathogenicity and improving confidence in classification decisions. This represents a meaningful step toward making VarSome the most complete and globally representative variant interpretation platform available, reinforcing our partnerships ecosystem and our commitment to delivering best-in-class genomic intelligence.

Calculate TMB and MSI in untargeted mode

TMB and MSI calculations are now available in untargeted mode.

Other Features

Export Gene Symbol in the spreadsheet: A “Gene Symbol” column is now included in the spreadsheet so that users can check the Gene used in germline classification.

GeneMind sequencing instruments now supported: We now support sequencing data generated using GeneMind instruments. Users will be able to select GeneMind sequencing instruments when launching analyses.

New group setting to always annotate with MANE transcript: A new group-level setting to always annotate with the MANE transcript ensures that variant annotations across all users in an organization are consistently anchored to the single, clinically authoritative transcript per gene.

Improved DNA + RNA analysis review: RNA analysis can now be visualized in a tab next to DNA results, eliminating the need to open a new page.

Masking for the HG38 reference genome: We have optimized the hg38 reference genome by masking GRC exclusion regions, and resolving zero-mapping quality (MAPQ=0) issues to prevent missed variants and improve coverage in critical genes like U2Af1, CBS, and KCNE1.

Added a 'User Classification' column to the Variant table, visible for all analysis types.

Minor Fixes

Fixed a minor issue where the OncoKB filter was not available in the Variant Explorer's dynamic filters.

Fixed a minor issue affecting the Community contributions card.

Version 13.18.0.1 of VarSome was released on 9th July 2026.

• Fixed an issue affecting token issuance

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Version 13.18.0.0 of VarSome was released on 9th July 2026.

Summary of Key New Features

• Introduced VarSome Lighthouse, a Premium AI feature that generates structured, hallucination-free variant interpretation narratives grounded exclusively in the variant card's own data, covering germline criteria, gene biology, population frequencies, and curated literature. VarSome Lighthouse is available in 7 languages: English, Spanish, French, German, Italian, Portuguese, and Greek.
• Enhanced user login experience. The 2FA "Do not ask again for 30 days" checkbox is now ticked by default; sessions persist for the full 30-day period, and users are redirected to their intended page after login.
• Added KRIBB KOVA allele frequencies to the frequencies card alongside Kaviar and Bravo.
• Feedback comments are now restricted to logged-in users only.
• Added fusion and mitochondrial variant examples to the examples list on VarSome and VarSome Premium.

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.