Rare Disease Diagnostic — Foundation Learning Guide¶
For a reader with no background in this area. If you have watched the Foundations film series, this follows directly from it.
The one idea to hold¶
Phenotype terms (HPO) turn 'unusual facial features and seizures' into structured data a computer can reason over.
What this subject does with that idea¶
Takes a set of observed clinical features and produces a ranked list of conditions that could explain them.
The diagnostic odyssey averages years. Compressing it is the mission of this platform in a single agent.
Decision support for a qualified clinician — never autonomous diagnosis or prescribing. Every output on this page is intended to inform a clinician's judgement, not replace it.
What it cannot do¶
A ranked differential is a starting point for investigation, never a diagnosis.
Stating the limit is not a disclaimer bolted on the end — it is how you tell a tool that helps from a tool that misleads.
Vocabulary you will meet¶
| Term | Plain meaning |
|---|---|
| Capability | One named thing the platform can do, registered in capabilities.json |
live / planned |
Whether a capability actually answers today, or is intended |
| Decision support | Output that informs a clinician; it never decides |
| LIVE / REPRESENTATIVE / BURST | Whether a demo ran now, was pre-computed, or ran on remote GPUs |
Try it¶
The demo for this subject is A7:
.venv/bin/python scripts/run_demo.py A7
If it reports BLOCKED, the message names exactly what is missing. That is intentional — a demo
that cannot run says so rather than showing you something canned.