{
  "disease_schema": "nmd-vcell-disease-evidence-module/1.0",
  "module_release": "multidisease-evidence-v0.1.0",
  "disease_id": "FSHD",
  "disease_name": "Facioscapulohumeral muscular dystrophy",
  "etiologic_anchor": "DUX4",
  "module_status": "FULL_EVIDENCE_MODULE",
  "analysis": {
    "module_status": "full_evidence_module",
    "etiologic_anchor": "DUX4",
    "single_nucleus": {
      "nuclei": 32273,
      "samples": 8,
      "fshd_donors": 1,
      "control_donors": 1,
      "target_genes_requested": 17,
      "target_genes_detected": 17,
      "target_genes_present": [
        "CCNA1",
        "DUX4",
        "DUXA",
        "KHDC1L",
        "LEUTX",
        "MBD3L2",
        "MBD3L3",
        "MBD3L5",
        "PRAMEF1",
        "PRAMEF2",
        "PRAMEF4",
        "RFPL2",
        "SLC34A2",
        "TRIM43",
        "TRIM49",
        "TRIM51",
        "ZSCAN4"
      ],
      "day_thresholds": {
        "3": 0.0,
        "5": 0.0
      },
      "inference": "descriptive_only_one_donor_per_disease_state"
    },
    "timecourse": {
      "transcript_rows": 227465,
      "mapped_transcript_rows": 195829,
      "mapped_row_fraction": 0.8609192623040908,
      "mapped_tpm_mass_fraction": 0.9753454317544988,
      "annotation": "GENCODE_50_transcript_to_HGNC_metadata",
      "samples": 24,
      "culture_wells_per_condition": 4,
      "conditions": [
        "WT_DMSO",
        "WT_14h_dox",
        "iDUX4_DMSO",
        "iDUX4_2h",
        "iDUX4_6h",
        "iDUX4_14h"
      ],
      "target_genes_mapped": [
        "DUX4",
        "DUXA",
        "LEUTX",
        "ZSCAN4",
        "MBD3L2",
        "MBD3L3",
        "MBD3L5",
        "TRIM43",
        "PRAMEF1",
        "PRAMEF2",
        "PRAMEF4",
        "RFPL2",
        "KHDC1L",
        "SLC34A2",
        "CCNA1",
        "TRIM49",
        "TRIM51"
      ],
      "significant_14h_genes_q05_abs_lfc1": 6986,
      "inference": "induced_causal_cell_line_response_not_patient_therapeutic_efficacy"
    },
    "permitted_use": "state_stratification_and_intervention_experiment_design",
    "claim_ceiling": "no_patient_calibrated_treatment_response"
  },
  "metrics": [
    {
      "label": "Patient nuclei",
      "value": "32,273"
    },
    {
      "label": "Donor-level inference",
      "value": "1 FSHD2 + 1 control · descriptive"
    },
    {
      "label": "DUX4 time course",
      "value": "24 samples · 4 wells/condition"
    },
    {
      "label": "14 h response",
      "value": "6,986 genes · q<0.05, |LFC|≥1"
    }
  ],
  "claim_boundary": {
    "supports": [
      "DUX4-target state stratification",
      "induction kinetics",
      "stress-intervention experiment design"
    ],
    "does_not_support": [
      "patient-calibrated efficacy",
      "therapeutic ranking",
      "donor-general disease prevalence from one donor per state"
    ]
  },
  "route": "/resource/disease/fshd/",
  "figure": "/resource/assets/fshd-evidence-module-v01.svg"
}