GKS Schemas

Implementation of the pilot project requires the coordinated use of multiple schemas supporting genomic knowledge exchange.

VRS

To enable consistency and model inheritance, we have developed a VRS draft implementation that uses common data models and concepts shared with other genomic knowledge standards. In the first iteration of this pilot, the GKS core models are housed in the VRS repository alongside the VRS JSON Schema.

VRSATILE

We have implemented a new draft of VRSATILE that includes the categorical variation specification and the value object descriptor specification.

Variant Annotation

We have derived a validated clinical knowledge statements schema from the VA v0 framework.