Product Roadmap

Cat-VRS is under active development. A summary of many of our ongoing, future, and past efforts are found below. Additionally, progress on specific tasks can be monitored on GitHub.

Active

• Incorporate boolean logic into the constraint model to cover complex categorical variants

• Implement all Trial Use classes in testbed

• “Call to Action” manuscript: brief introduction and landscape analysis of categorical variants - Preprint available, Journal submission ready

• Pilot integration of Cat-VRS into Beacon v3 / VLM

• Computational Notebook-based examples and implementation guides (substantial progress made during the 2026 pre-connect GKS Hackathon)

Planned

• Maturity Dashboard

• cDNA Variant Recipe

• Oncogenicity Constraint

• Pathogenicity Constraint

• Complex Categorical Variants to represent e.g. Haplotypes, and PGx Star Alleles

• Support for systemic biomarker variants, such as TMB, MSI, or phosphorylation

• Recipe-based Guides and Tutorials for a more intuitive introduction to Cat-VRs documentation

• Add plain-language Glossary-of-Terms to the ReadTheDocs documentation

• Add plain-language (in addition to computational), intuitive descriptions for all data classes

Complete

• 2026 Q1 (March) - New recipes for Function variants and Fusions.

• 2026 Q1 (March) - Representation of fusions via an AdjacencyConstraint and FunctionConstraint

• 2026 Q1 (February) - Implement additional constraints, including the CopyChangeConstraint, the FeatureContextConstraint, and the FunctionConstraint.

• 2025 Q3 (December) - Trial Use Review Ballot for additional constraint classes (copy change, feature context)

• 2025 Q2 (June) - Expand Cat-VRS examples.

• 2025 Q2 (June) - Cat-VRS v1.0 public release

• 2025 Q2 (May) - GA4GH Product Approval.

• 2025 Q1 (Jan) - Solicitation for use cases and users projects for Cat-VRS implementation.

• 2025 Q1 (Jan) - v0.2 draft release of reference implementation; cat-vrs-python

• 2024 Q4 (Nov) - Trial Use Review Ballot (11/2024) for core classes (categorical variant, copy count constraint, defining allele constraint, and defining location constraint) and recipes (canonical allele and protein sequence consequence)

• 2024 Q4 (Nov)- v0.1 draft release of reference implementation; cat-vrs-python

• 2024 Q3 (Sept) - Pre-release of specification for GA4GH Plenary Connect

• 2024 Q2 (May) - Adopted constraint-based model to describe categorical variants

• 2024 Q2 (Apr) - Pre-release of specification for GA4GH Connect

• 2024 Q1 (Jan / Feb) - Defined initial test set of categories of variants that the Cat-VRS specification must describe

• 2023 Q4 (Oct) - Launch of Categorical Variation study group meetings

• 2023 Q4 (Oct) - Defined initial scope of problem, as well as potential contributing producers and consumers

• 2023 Q3 (Sept) - Categorical Variation Study Group formed at GA4GH 11th Plenary