The GKS Variation Representation Specification (VRS) has gone through several minor revisions since its initial release as a GA4GH standard in 2019, most recently incorporating genotypes and additional structures for representing copy number variation in VRS v1.3. Implementations of VRS and the extensions from VRSATILE in production systems have revealed key considerations for the development of the second major version of VRS, a primary focus of the VR team in the coming year. This session will review implementations of VRS in major genomic evidence resources such as MaveDB and gnomAD, highlighting lessons learned and how those have informed development of the VRS v2.0a model. We will discuss the design of this model in the context of a pilot implementation with the ClinVar and CIViC datasets.

This session is for people who want an in-depth preview and discussion of implementation of the GKS VRS specification.