Rare Disease Diagnostic Agent -- Documentation Index¶
Part of the Precision Intelligence Network — one of 11 specialized agents sharing a common molecular foundation within the HCLS AI Factory.
RAG-powered rare disease diagnostic support system built on Milvus, Claude, and BGE-small-en-v1.5. Part of the HCLS AI Factory precision medicine platform.
Version: 1.0.0 | Author: Adam Jones | Date: March 2026
Documentation¶
| Document | Description |
|---|---|
| Project Bible | Complete reference -- collections, workflows, API, configuration |
| Architecture Guide | System design, data flow, HPO matching pipeline, ACMG pipeline |
| White Paper | Diagnostic odyssey problem, RAG-based solution, validation |
| Deployment Guide | Docker Compose, manual setup, Milvus tuning, security |
| Demo Guide | 5-tab walkthrough, sample HPO queries, ACMG demo, gene therapy demo |
| Learning Guide -- Foundations | Rare disease primer, HPO ontology, ACMG criteria, inheritance, gene therapy |
| Learning Guide -- Advanced | ACMG 28-criteria deep dive, phenotype matching, family segregation, natural history |
| Production Readiness Report | Capability matrix, test suite, deployment checklist |
| Research Paper | Full technical paper with PRD elements |
Quick Links¶
- Streamlit UI: Port 8544
- FastAPI API: Port 8134
- 10 Diagnostic Workflows | 14 Vector Collections | 13 Disease Categories
- 193 Tests | 100% Pass Rate | <0.2s Runtime
Apache 2.0 License
Clinical Decision Support Disclaimer
This agent is a clinical decision support research tool. It is not FDA-cleared and is not intended as a standalone diagnostic device. All recommendations should be reviewed by qualified healthcare professionals. Apache 2.0 License.