Pillar III: User Stories
User stories are the third pillar of the Starter Kit: real community use cases, each told as one vignette about who, what problem, and what GKM unlocks, with the actual data and tools. The common thread is always the same: what a group needs the standards for, and the standards delivering it.
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By product: GKM-Core VRS Cat-VRS VA-Spec
By pattern: Clinical evidence sharing Cross-source variant harmonization Knowledgebase exchange
By implementer: BRCA Exchange CIViC ClinGen Individual-Centric Genomics Platform JPN
All user stories
Harmonizing ClinVar by VRS identity
Implementer: ClinGen · Pattern: Cross-source variant harmonization · Status: production
Products: GKM-Core 1.3.0 VRS 2.1.1 Cat-VRS 1.1.1 VA-Spec 1.1.0
Republishing all of ClinVar in the GKM so every variant carries a VRS identity and every classification is a structured VA-Spec statement, letting you join ClinVar to any VRS-aware dataset by identity.
Sharing oncogenicity knowledge with GA4GH GKM
Implementer: CIViC · Pattern: Knowledgebase exchange · Status: pilot
Products: GKM-Core 1.1.0 VRS 2.1.1 Cat-VRS 1.1.1 VA-Spec 1.1.0
CIViC represents oncogenicity classifications and their supporting evidence with GA4GH GKM for exchange, reuse, and workflows such as ClinVar submission.
Making personal genomic knowledge auditable so AI can be trusted, not just believed
Implementer: Individual-Centric Genomics Platform JPN · Pattern: Clinical evidence sharing · Status: proposal
Products: VRS 2.0 Cat-VRS 1.0 VA-Spec 1.0
Individual-Centric Genomics Platform JPN uses VRS, Cat-VRS, and VA-Spec to make personal genomic knowledge traceable and auditable for people and AI tools.
Identifying unique variants across sources with VRS
Implementer: BRCA Exchange · Pattern: Cross-source variant harmonization · Status: pilot
Products: VRS 2.0
Using VRS digests to deduplicate BRCA variants pulled from ClinVar, gnomAD, LOVD, and the literature.