Version 13.9.0 of VarSome and VarSome Clinical was released on 23 August 2025.
Summary of Key New Features
New Features
Repeat Expansion Annotation
Repeat expansion annotation of VCFs produced by Oxford Nanopore Technologies and DRAGEN secondary analysis pipelines is now supported. Integration of the gnomAD STR dataset, allowing the retrieval of the normal maximum of repeats and the minimum number of pathogenic repeats thresholds, enables assessment of potential pathogenicity. Users can also access information on associated diseases, OMIM® accession numbers, and global allele frequencies for repeat counts reported in gnomAD.
Improved Element Biosciences Support
VarSome Clinical users can now select Element Biosciences as their sequencer when launching an analysis or creating a workflow.
Deeper OncoKB™ Integration
OncoKB™ integration has been expanded to include VarSome, VarSome Premium, VarSome Clinical, and now, VarSome API. VarSome API users can now retrieve OncoKB™ data, as well as obtain somatic classifications that consider OncoKB™ data as evidence.
VarSome API Query Regulating
To ensure reliable and efficient performance of VarSome API for all users, batch queries will now support up to 200 variants for germline data and up to 50 variants for somatic data per request. Users can still send multiple requests.
Minor Fixes and Additions
- Users can now see their mitochondrial variants counted and cross-referenced in the Samples card.
- New filter shortcut to view only variants with user or user group comments.
- PanelApp has been removed as a source for Mode of Inheritance (MOI) due to inconsistencies in data.
- Users can now filter results by multiple Tiers when using the Somatic Rule Dynamic Filter.
- Button added to “file upload” page for Illumina BaseSpace integration.
- Confirmation step added when users choose to delete their account.
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.
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