{
  "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
  }
}