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test(benchmark): add 50 curated clinical disease and target benchmark cases - #20

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engkinandatama merged 1 commit into
CORE-Lab-Research:mainfrom
engkinandatama:feat/phase-1.5-clinical-benchmark
Sep 30, 2026
Merged

engkinandatama merged 1 commit into
CORE-Lab-Research:mainfrom
engkinandatama:feat/phase-1.5-clinical-benchmark

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Summary of Changes

  • Clinical Benchmark Suite: Added tests/test_clinical_benchmark.py completing the final deliverable of Phase 1.5 in PRD/ROADMAP.md.
  • Coverage:
    • Category 1: Monogenic & Mendelian Rare Diseases (15 cases: Cystic Fibrosis, Huntington, Gaucher, Marfan, Sickle Cell, PKU, Wilson, Tay-Sachs, DMD, NF1, Friedreich Ataxia, Achondroplasia, Fabry, Hemochromatosis, SMA).
    • Category 2: Major Cancer Genes & Syndromes (15 cases: Li-Fraumeni, Breast Cancer, CRC, Retinoblastoma, Melanoma, NSCLC, PDAC, Cowden, FAP, VHL, Ovarian Cancer, GIST, CML, MEN1, Burkitt Lymphoma).
    • Category 3: Common Complex & Neurodegenerative Diseases (10 cases: Alzheimer, Parkinson, ALS, T2D, Crohn, RA, SLE, Celiac, MS, IPF).
    • Category 4: Pharmacogenomics & Clinically Drugged Targets (10 cases: ALL/TPMT, Thromboembolism/VKORC1, Fluorouracil Toxicity/DPYD, SCID/IL2RG, Gout/SLC2A9, Hypercholesterolemia/PCSK9, Hypertension/ACE, Asthma/IL4R, Malignant Hyperthermia/RYR1, Long QT/KCNQ1).
  • KPI Verification:
    • Evaluates MONDO Disease Ontology resolution across all 50 cases (100% Passed).
    • Evaluates Open Targets disease-target association scoring & schema validity (100% Passed).
    • Evaluates Europe PMC / PubMed scientific publication grounding (100% Passed).
    • Total: 80 benchmark assertions passing in 106s.

@engkinandatama
engkinandatama merged commit 9dcd333 into CORE-Lab-Research:main Sep 30, 2026
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