G2P
Scope
This project tracks how Gene2Phenotype (G2P) disease rows map onto dismech's disease-centric knowledge model, with the goal of turning comparison output into curation triage rather than a one-off research exercise.
Canonical Locations
- Project note:
docs/research/g2p_database_alignment.md - Full-release audit snapshot:
docs/research/g2p_all_genes_audit_2026_03_28.md - Row-level triage TSV:
docs/research/g2p_all_genes_row_triage_2026_03_28.tsv - Gene-level summary TSV:
docs/research/g2p_all_genes_gene_summary_2026_03_28.tsv
Code Organization
Comparison code now lives under src/dismech/compare/ instead of the package
top level:
src/dismech/compare/d2p.py: disease-to-phenotype comparison flowsrc/dismech/compare/g2p.py: G2P-to-dismech comparison flowsrc/dismech/compare/g2p_audit.py: compatibility wrapper for the initial G2P audit CLIsrc/dismech/compare/support.py: shared comparison helpers
This keeps the G2P work aligned with the earlier D2P comparison architecture instead of adding another top-level framework.
Practical Commands
just g2p-compare PTEN
just g2p-compare-all PTEN FLNB PIK3CA FGFR2
just g2p-compare-release
just g2p-compare-release-triage
uv run python -m dismech.compare.g2p compare PTEN --format json
Current Focus
- make row-status output actionable for curation
- identify genes where dismech has rooted disease coverage vs embedded-only coverage
- separate disease-identity alignment, PMID overlap, and mechanism-model alignment in the audit output