Im a final-year CS student building a rare-disease patient-matching engine (FOUR) for my final project. The system combines:
- XGBoost for variant pathogenicity prediction (ClinVar data)
- node2vec graph embeddings on the Human Phenotype Ontology
- Louvain community detection for syndrome discovery
- A federated matching protocol (query/score exchange, no patient data sharing)
What I'm looking for either someone with ML/bioinformatics experience who can sanity-check my approach when I hit roadblocks
ORRR someone with medical/clinical genomics knowledge who can translate domain concepts when I'm confused
It wont be an ongoing supervision dw lmao, just someone I can DM once in a while when I'm stuck or want a second opinion
What you'd get out of this :
- An interesting project to follow (rare disease matching, federated privacy, novel syndrome discovery)
- A genuine "thank you" in my acknowledgements / methodology if you help significantly
- A peer exchange, I can return the favor in areas I'm strong in (Python, software engineering, databases)
My tech stack: Python, XGBoost, node2vec, PostgreSQL/JSONB, FastAPI, Docker
Thanks for reading 🙏