How to contribute
You do not need to know Git, RDF, or any programming language to participate. Pick the path that fits you.
Share a disease resource
Fill in a web form — no GitHub account needed, no code. Use any disease ontology you know: Orphanet, OMIM, ICD, SNOMED, GARD, and more. Your submission becomes a GitHub Issue that the team turns into FAIR data.
Contribute structured data
Add or edit Turtle files directly in the repo. Data is validated against ShEx profiles on every pull request. The FAIR Data Point is rebuilt and indexed automatically on merge.
Read CONTRIBUTING.md →Already have a GitHub account? These links go directly to each form (faster during the live session):
Explore the FAIR Data
All structured contributions are published as a FAIR Data Point — machine-readable RDF available in Turtle and JSON-LD, listed in the StaticFDP Index alongside other FAIR Data Points worldwide.
🗂 This session's FAIR Data Point
Catalog and dataset metadata for all disease cases collected in this session. Served as RDF Turtle and JSON-LD. Updated automatically on every merge.
🌐 StaticFDP Index
A daily-crawled index of all registered FAIR Data Points. This session's FDP will appear here after the first push.
🧬 Per-Disease FAIR Dataset Index
Every disease submitted during this and future sessions becomes its own
versioned FAIR dataset — diseases/{slug}/ in this repository.
Each folder contains RDF Turtle, JSON-LD, a human-readable README, and
linked ontology/data gap reports. The index below is the entry point for
other biohackathons to discover and reuse this data.
How to use
# Python
from rdflib import Graph
g = Graph()
g.parse("https://fdp.semscape.org/ga4gh-rare-disease-trajectories/diseases/index.ttl")# curl
curl https://fdp.semscape.org/ga4gh-rare-disease-trajectories/diseases/index.ttlTechnical contribution guide
The repository uses extensionless Turtle files validated by ShEx. GitHub Actions handles validation, SHACL generation, and FDP index pinging automatically.
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Fork or clone the repository github.com/StaticFDP/ga4gh-rare-disease-trajectories
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Create a case folder Copy
cases/_template/tocases/your-disease-name/. Fill innarrative.md,timeline.yaml,phenotype-map.yaml. -
Add a dataset Turtle file Create an extensionless file (e.g.
cases/your-disease/dataset) using the Dataset.shex profile as your guide. ShEx validation runs automatically on your PR. -
Open a pull request CI runs ShEx validation (primary gate) and SHACL cross-check. On merge: SHACL + JSON-LD are generated and the FDP index is pinged.
Session agenda
April 16, 2026 · 2:00–4:45 PM
| Time | Item | Who |
|---|---|---|
| 2:00 | Introduction & framing | Andra & Ada |
| 2:10 | Disease terminologies + ECTO ontology | Nicole |
| 2:20 | HPO — purpose and boundaries HPO | Jules |
| 2:25 | Phenopackets — purpose and boundaries | Jules |
| 2:35 | Facial image–based phenotyping (GestaltMatcher) | Tzung-Chien Hsieh |
| 2:45 | Structured phenotyping in clinical genetics | Orion |
| 2:55 | Use case presentations (10 min each) | Danielle, Zohreh, Janine, Ada |
| 3:35 | Group work & mapping hands-on | All |
| — break — | ||
| 4:35 | Wrap-up & next steps FDP | All |
Key resources
Standards, tools, and registries referenced in this session.
Live demonstrations
Two interactive demos showing what becomes possible once disease data is FAIR.