Reflecting on an Incredible 2025 for VRS 🌟

[Beatrice Amos]

Dear VRS Community,

As 2025 draws to a close, we want to extend our heartfelt thanks to the VRS contributors, implementers, and the wider community for making this such an incredible and productive year for the GA4GH Variation Representation Specification (VRS).
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Highlights from 2025

This year was marked by real momentum across both specification development and implementation:

VRS 2.0 maturity and adoption

• 🎉 VRS 2.0 was officially approved as a GA4GH standard!
• Continued refinement and implementation of VRS 2.0, including fixes for critical issues and advances in cis-phased blocks to support haplotype-aware predictions.
• Active feedback from early adopters strengthening robustness, clarity, and modelling boundaries.
• Growing use of VRS objects in production pipelines and data exchange.
• Major progress on intronic and transcript-relative variants
• Strong alignment across VRS, Variant Annotation, and implementer needs, informed by real-world use cases including VEP, ClinVar GKS, Beacon, and ClinPGX.

Growing implementation ecosystem

• Continued advances across projects such as ClinVar-GKS, AnyVAR, VRS-in-a-Box, GKS submission utilities, and language-specific implementations.
• Bug fixes and releases in VRS Python driven directly by implementer experience.
• Clear demonstrations of VRS value through real-world adoption.

Cross-community collaboration

• Productive engagement with ClinPGX, PharmVar/CPIC concepts, and discussions around star alleles, haplotypes, and genotypes.
• Early groundwork for gene fusion representation, including exploration of adjacency concepts in VRS 2.0 and alignment with clinical and reporting needs.
• Strong participation in GA4GH Connect sessions, hackathons, and working meetings, and ongoing coordination across GKS efforts to keep VRS aligned, pragmatic, and implementable.

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Looking Ahead to 2026

We are heading into 2026 with exciting priorities and a clear sense of direction:

• A new VRS roadmap process, driven directly by implementer and community priorities.
• Finalisation and integration of the intronic / relative allele model into the VRS spec and reference implementations.
• Continued work on gene fusions, adjacencies, and genotype-level modeling, including revisiting haplotype and genotype structures to support complex variation.
• Expanded documentation, tutorials, and examples to lower the barrier for new adopters.
• Stronger validation, conformance, and implementation guidance to support robust production use.
• Deeper collaboration with the broader GA4GH community to ensure VRS continues to meet evolving real-world needs.

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Thank you to everyone who led discussions, reviewed drafts, built tools, tested implementations, asked hard questions, and showed up month after month.

We wish you all a restful festive period, and a happy, healthy, and inspiring New Year. 🎄

We very much look forward to continuing the journey together in 2026.

Best,
The VRS Leadership Team

Alex Wagner and Larry Babb

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Beatrice Amos

Work Stream Manager

beatri...@ga4gh.org

ba...@sanger.ac.uk