An end-to-end AI pipeline for precision medicine: from a patient's genomic data to a report a clinician can act on.
- Genomic datapatient sequencing
- Variant analysisannotation
- PathogenicityNucleotide Transformer v2
- Cancer typeclassification
- Decision supporttherapeutic recommendation
- Medical reportLLM-generated
Key decisions
- Every stage produces an inspectable intermediate output: the final report is never a black box.
- The pathogenicity model is progressively fine-tuned (published method, see Research).
- The LLM writes, it does not decide: it formats results from earlier stages, under human validation.
- Python
- PyTorch
- Hugging Face
- LangGraph
- LLM
- Bioinformatics