File size: 1,981 Bytes
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"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
}
} |