The Variant Annotation specification provides a framework to define schema for different types of variant knowledge statements that are rooted in a common conceptual model. The VA team has focused on an implementation-driven development approach wherein initial Statement models are defined directly by Driver Projects to support working applications with real data. Using the VA Framework, ClinGen and VICC projects have developed VA-informed alpha models for Variant Pathogenicity, Therapeutic Response, and Population Frequency Statements — which will support exchange of ClinVar, CIViC, and gnomAD data between their variant curation platforms. As these implementation models are tested and refined in real-world settings, the VA team will oversee their coalescence and hardening into standard models that can be used by the broader community. This process will require harmonisation between VA-informed implementation models and the standard models that VA aims to provide to the community for out-of-the-box interoperability. This session will explore how this harmonisation process will work using real models and data — with the goal of bringing alpha implementations into alignment with the VA specification ahead of its v1.0 release.
This session is targeted towards projects who have or plan to implement the VA Framework to develop application models for their systems, and want to understand and/or help define the process through which standard models emerge in an implementation-led paradigm.
Alex Wagner, Ohio State University / Nationwide Children’s Hospital
Matthew Brush, Oregon Health & Science University
Javier Lopez, Genomics England