{
  "disease_schema": "nmd-vcell-disease-evidence-module/2.0",
  "module_release": "multidisease-evidence-v0.2.0",
  "disease_id": "DMD",
  "disease_name": "Duchenne muscular dystrophy",
  "disease_ontology_ids": [
    "ORPHA:98896"
  ],
  "etiologic_anchor": "Dystrophin loss",
  "module_status": "CORE_MEASURED_CONTEXT_PROSPECTIVE_CANDIDATE_VALIDATION",
  "evidence_depth": "deep_measured_context_with_explicit_candidate_truth_gap",
  "analysis": {
    "schema": "nmd-vcell-measured-dmd-evidence-api/1.0",
    "object_id": "MDE:v1.2.0-measured-dmd-evidence:EA-20260804-49",
    "resource_release": "v1.2.0-measured-dmd-evidence",
    "interface_build": "EA-20260804-49",
    "evidence_freeze": "2026-08-03",
    "release_state": "RELEASED_MEASURED_DMD_CONTEXT_CANDIDATE_PREDICTION_LOCKED",
    "evidence_chain": [
      "DMD induction",
      "patient-muscle pathway replication",
      "DMD-locus CRISPR correction",
      "organoid heterogeneity"
    ],
    "headline_results": {
      "gse272233_samples": 21,
      "gse272233_biological_repeats_per_group": 3,
      "reactome_pathways_tested": 1559,
      "dual_supported_reversal_all_3_backgrounds": 0,
      "background_specific_dual_supported_reversal": 24,
      "prjna772047_camera_supported_disease_pathways": 291,
      "disease_direction_consistent_all_3_external_datasets": 810,
      "strict_independent_reversal_all_3_backgrounds": 0
    },
    "validation_status": {
      "section": "limitations",
      "stage": "prospective_validation_prespecified",
      "candidate_count": 21,
      "candidate_dmd_response_truth": "0/21",
      "candidate_level_dmd_pathway_predictions": 0,
      "interpretation": "Validation gap; not an observed negative biological effect.",
      "candidate_truth_boundary": "candidate-truth-boundary.json"
    },
    "api": {
      "gse272233_reactome": "gse272233-reactome.json",
      "external_validation": "external-validation.json",
      "sample_qc": "sample-qc.json",
      "statistical_units": "statistical-units.json",
      "candidate_truth_boundary": "candidate-truth-boundary.json",
      "cleanroom_reproducibility": "cleanroom-reproducibility.json",
      "release_manifest": "release-manifest.json"
    },
    "figure": {
      "page": "/resource/measured-dmd-evidence/",
      "pdf": "/resource/downloads/figure8_measured_dmd_evidence_v1.pdf",
      "png": "/resource/downloads/figure8_measured_dmd_evidence_v1.png",
      "source_data": "/resource/downloads/figure8_measured_dmd_evidence_source_data_v1.tsv"
    },
    "cleanroom_reproducibility": {
      "status": "PASS",
      "checks": {
        "checks": 16,
        "passed": 16,
        "failed": 0
      },
      "api": "cleanroom-reproducibility.json",
      "report": "/resource/downloads/CLEANROOM_MEASURED_DMD_REPRODUCIBILITY_REPORT_v1.md",
      "isolation_boundary": "Fresh path-isolated workspace and process environment; system Python/R packages reused, not a container or independently administered host."
    },
    "claim_boundary": {
      "allowed": "Measured DMD-locus induction/correction and sample-level external disease pathway replication with explicit small-n limitations.",
      "blocked": "Candidate-gene response prediction in DMD cells, therapeutic efficacy, patient-level simulation and clinical decision support."
    }
  },
  "metrics": [
    {
      "label": "Correction dataset",
      "value": "21 samples · 3 repeats/group"
    },
    {
      "label": "External patient muscle",
      "value": "3 DMD + 2 normal · small-n"
    },
    {
      "label": "Candidate queue",
      "value": "21 governed actions · no numeric current rank"
    },
    {
      "label": "Measured candidate truth",
      "value": "0/21 · prospective"
    }
  ],
  "claim_boundary": {
    "supports": [
      "measured DMD induction and locus correction",
      "small-n patient-muscle pathway replication",
      "prospective candidate experiment design"
    ],
    "does_not_support": [
      "measured candidate-level DMD response",
      "therapeutic efficacy",
      "patient-level simulation or clinical recommendation"
    ]
  },
  "route": "/resource/disease/dmd/",
  "legacy_evidence_route": "/resource/measured-dmd-evidence/",
  "figure": "/resource/downloads/figure8_measured_dmd_evidence_v1.png"
}
