The Variant Annotation (VA) specification will provide a framework to define schema for different types of variant knowledge statements that are rooted in a common underlying conceptual model so that they can be understood and used together in working data systems.
To date, the VA team has focused on an implementation-driven development approach, wherein Driver Projects directly define initial drafts of statement models to support working systems with real data. For example, ClinGen and the VICC are developing models for Variant Pathogenicity and Therapeutic Response Statements, to support the exchange of ClinVar and CIViC data between their variant curation platforms. As these implementation models are tested and refined in real-world applications, the VA team will oversee their coalescence and hardening into standard models that can be used by the broader community.
This Connect session will provide an overview of an initial v1.0 release of the VA spec and give updates about work by the VA team. We will discuss specific challenges related to coordination with other GKS standards, as well as infrastructure needed to support an implementation-led development paradigm. Finally, we will engage the larger GA4GH community for feedback and requirements.