| { |
| "sku": "HLT011", |
| "generated_at": "2026-05-17T19:32:30.740899", |
| "n_patients": 1500, |
| "n_diseases": 48, |
| "n_columns": 107, |
| "seed": 42, |
| "validation_score": "15/15", |
| "grade": "A+", |
| "validation_results": { |
| "Diagnosis delay range": { |
| "status": "PASS", |
| "detail": "mean=6.01 years (benchmark: 2-12)" |
| }, |
| "Misdiagnoses Poisson": { |
| "status": "PASS", |
| "detail": "mean=2.83 (benchmark: ~2.8)" |
| }, |
| "HPO term count": { |
| "status": "PASS", |
| "detail": "mean=15.0, range=[5,25]" |
| }, |
| "Responder rate": { |
| "status": "PASS", |
| "detail": "46.4% (benchmark: ~45%)" |
| }, |
| "Trial enrollment rate": { |
| "status": "PASS", |
| "detail": "38.7%" |
| }, |
| "ACMG pathogenic rate": { |
| "status": "PASS", |
| "detail": "77.9% P/LP (benchmark: 70-85%)" |
| }, |
| "5yr survival range": { |
| "status": "PASS", |
| "detail": "mean=0.674" |
| }, |
| "Enzyme activity > 0": { |
| "status": "PASS", |
| "detail": "min=0.0810" |
| }, |
| "Responder biomarker improvement": { |
| "status": "PASS", |
| "detail": "100.0% responders improved (benchmark: >55%)" |
| }, |
| "QoL EQ-5D range": { |
| "status": "PASS", |
| "detail": "range=[0.161,1.000]" |
| }, |
| "Ultra-rare fraction": { |
| "status": "PASS", |
| "detail": "0.0%" |
| }, |
| "Disease catalogue coverage": { |
| "status": "PASS", |
| "detail": "48 diseases represented" |
| }, |
| "NBS result coding": { |
| "status": "PASS", |
| "detail": "All values valid" |
| }, |
| "Severe AE rate": { |
| "status": "PASS", |
| "detail": "4.6% grade 4-5 (benchmark: <10%)" |
| }, |
| "Eligibility score range": { |
| "status": "PASS", |
| "detail": "range=[0.219,1.000]" |
| } |
| }, |
| "key_stats": { |
| "mean_diagnostic_delay_years": 6.01, |
| "mean_n_misdiagnoses": 2.83, |
| "mean_n_hpo_terms": 15.0, |
| "responder_rate": 0.464, |
| "enrollment_rate": 0.387, |
| "mean_5yr_survival": 0.674, |
| "ultra_rare_fraction": 0.0 |
| } |
| } |
