ClinVar-GKM — What It Unlocks¶
A ~6-minute (14-slide), visual-first companion to the ClinVar-GKM Primer. Where the Primer explains the model, this brief focuses on what the project makes possible — for non-programmers, developers, tool and AI builders, clinical teams, and submitters. Each opportunity is tagged for honesty: Available now, Now within reach, or On the roadmap.
Presented at GA4GH Connect — October 2, 2026
A companion opportunity brief for GA4GH Connect (October 2, 2026).
Open the presentation (fullscreen) ↗
The deck is interactive — use the arrow keys to navigate. The preview below runs the same deck inline; open it fullscreen (link above) for presenting.
Keyboard shortcuts¶
| Key | Action |
|---|---|
→ · Space |
Next slide |
← |
Previous slide |
Home / End |
First / last slide |
S or N |
Toggle speaker notes |
T |
Toggle light / dark theme |
F |
Toggle fullscreen |
? |
Show / hide the shortcut help |
What it covers¶
- The shift — from parsing pipelines to a queryable platform
- Free the data — one standardized source for everyone
- Analyze without a parser — bring-your-own-variants analysis
- Ask better questions — discovery by gene, significance & review quality → the literature
- Delete your XML pipeline — remove developer technical debt
- A schema that won't surprise you — governed, versioned GKM vs. ad-hoc XML change
- Always current — weekly deltas, no re-parsing
- Rebuild VCFs — your way — full or partial, tailored outputs
- Temporal analysis — how classifications change over time (roadmap)
- AI-ready — consistent, semantic ground truth for models, agents & knowledge graphs
- Unlock case-level & functional data — reach data few can use today (roadmap)
- Better submissions — review & submit tooling in your existing workflow
- Built to be built on — who benefits + get started
Source
A single self-contained HTML file:
docs/assets/presentations/clinvar-gkm-unlocks.html.
No external dependencies; works offline.