Name
Harmonising Categorical Variant Representation with the Beacon Protocol
Date & Time
Tuesday, April 14, 2026, 2:30 PM - 4:00 PM
Description

This session will convene a focused, collaborative design sprint to establish a clear, implementable model for integrating Categorical Variant Representation (Cat-VRS) with the Beacon protocol. The core challenge is defining how categorical variant classifications, such as "gain-of-function," "likely pathogenic," or "variant of uncertain significance", can be reliably used as query filters and response attributes in Beacon, moving beyond purely coordinate-based matching. This work is essential for enabling phenotype- and consequence-aware genomic discovery, a need frequently expressed by clinicians and translational researchers.

Participants will engage in a hands-on mapping and prototyping exercise, using real-world variant annotation datasets to define a standardised schema for conveying categorical variant assertions within Beacon's query and response framework.

The goal is to produce a consensus-driven, technical deployment roadmap that specifies how Cat-VRS terminology and concept expressions can be incorporated into current Beacon implementations, ensuring interoperability between clinical variant knowledge bases and federated Beacon networks.

Meeting aims: The goal of this session is to produce a shared set of collaboration scoping, requirements, and preliminary technical design artifacts that will enable a coordinated Beacon pilot built on Cat-VRS.

Anticipated outputs from this meeting include:

  • draft Representative Query & Variant Test Set;
  • description of current variant types exchanged within Beacon v2.0, and aspirational variant types that Beacon hopes to support within Beacon v3.0;
  • an initial, non-normative collection of representative Beacon query and variant examples (e.g. JSON payloads) intended to concretise requirements and serve as a shared validation target during development;
  • collaboration cadence and points of contact: who, when, and how often to hold virtual follow-up meetings to keep development on-track;
  • Beacon/Cat-VRS Requirements Statement (required data types, value domains, and representational constraints, and algorithmic and matching considerations that may influence Cat-VRS design and implementation).
  • Pilot Implementation Timeline (target milestones for a Beacon 3.0 pilot leveraging VRS and cat-VRS, and dependencies and critical path items).

If time permits us to get into the weeds, additional topics might include:

  • candidate Cat-VRS Recipes to support current and aspirational Beacon Use Cases;
  • candidate Cat-VRS Constraint Proposals
  • proposals for new constraints or proposals to update existing constraints
Session topic(s)
Genomic Knowledge Standards, Discovery
Session format(s)
Working session: collaborative work toward a specific goal or consensus, Group Discussion: particular topic to gather feedback, perspectives, or ideas, Whiteboard session: brainstorming activity using interactive tools
Suggested level of familiarity
Level 2: Have a basic understanding to follow the conversation and contribute thoughtfully