{
  "disease_schema": "nmd-vcell-disease-evidence-module/1.0",
  "module_release": "multidisease-evidence-v0.1.0",
  "disease_id": "DM1",
  "disease_name": "Myotonic dystrophy type 1",
  "etiologic_anchor": "DMPK CTG repeat",
  "module_status": "FULL_EVIDENCE_MODULE",
  "analysis": {
    "module_status": "full_evidence_module",
    "etiologic_anchor": "DMPK_CTG_repeat",
    "gse127296_samples": 8,
    "gse127296_repeat_clones": 4,
    "gse127296_no_repeat_clones": 4,
    "isogenic_expression_genes_q05_abs_lfc05": 53,
    "isogenic_splicing_events_fdr05": 163,
    "patient_samples_total": 86,
    "adult_dm1_independent_samples": 22,
    "adult_control_independent_samples": 7,
    "congenital_independent_samples": 34,
    "pediatric_control_independent_samples": 21,
    "repeat_biopsies_excluded": [
      "CDM-18",
      "CDM-36"
    ],
    "adult_expression_genes_q05_abs_lfc05": 2704,
    "patient_splicing_events_fdr05_abs_dpsi010": 967,
    "patient_splicing_genes_fdr05_abs_dpsi010": 619,
    "cross_expression_spearman_rho": -0.03866130721558457,
    "cross_expression_spearman_p": 8.534129558128238e-06,
    "cross_expression_gene_count": 13249,
    "cross_expression_global_alignment": "negligible_no_global_expression_reversal",
    "splicing_overlap_universe": 10258,
    "splicing_overlap_isogenic_genes": 116,
    "splicing_overlap_patient_genes": 550,
    "splicing_overlap_genes": 36,
    "splicing_overlap_hypergeom_p": 1.3540779795175399e-18,
    "inference": "isogenic_correction_reference_plus_patient_expression_and_splicing_no_clinical_prediction",
    "clone_boundary": "CRISPR-derived clones are not independent patients; clone effects may contribute to correction contrasts.",
    "permitted_use": "expression_and_splicing_correction_reference",
    "claim_ceiling": "no_prognosis_or_treatment_ranking"
  },
  "metrics": [
    {
      "label": "Isogenic clones",
      "value": "4 repeat + 4 no-repeat"
    },
    {
      "label": "Patient biopsies",
      "value": "86 total"
    },
    {
      "label": "Patient exon-skipping",
      "value": "967 events"
    },
    {
      "label": "Splicing convergence",
      "value": "36 genes · p=1.35e-18"
    }
  ],
  "claim_boundary": {
    "supports": [
      "isogenic molecular correction reference",
      "patient exon-skipping map",
      "typed functional splicing endpoints"
    ],
    "does_not_support": [
      "global expression rescue",
      "clinical prognosis",
      "clone-to-patient equivalence",
      "treatment ranking"
    ]
  },
  "route": "/resource/disease/dm1/",
  "figure": "/resource/assets/dm1-evidence-module-v01.svg"
}