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Genomic Knowledge Model

The Genomic Knowledge Model (GKM) defines shared models for genomic variation and related knowledge. It is part of the broader GA4GH Genomic Knowledge Standards (GKS) Work Stream.

Standards

Use GKM standards individually or together to describe genomic knowledge. Start with GKM-Core, which provides shared building blocks. VRS builds on those concepts to represent molecular variation. Cat-VRS adds categories to VRS representations, and VA-Spec connects variation representations to interpretations, provenance, and supporting evidence.

VA-Spec

Variant Annotation Specification
Connects variation representations to interpretations and evidence.

VRS

Variation Representation Specification
Describes precise molecular variation.

GKM-Core

Genomic Knowledge Standards Core
Provides shared concepts for genomic knowledge.