NMD-VCell Evidence & Experiment Workbench Audit disease-specific evidence, compare gaps, and freeze the missing test Module: Research Workbench · evidence-to-experiment workflow NMD = neuromuscular disorders
Search Data & API Current release

Current limit: disease modules compare measured states and intervention evidence, but none emits a calibrated patient-level prediction. DMD candidate validation remains prospective.

Research evidence only 21 prioritized candidate perturbation records 2,160 benchmark perturbation targets 250 observed human-myoblast fusion hits Prospective DMD candidate validation pending Boundary & release
21 Workbench candidates are surfaced for consideration, not ranked as validated targets 2,160 target-level perturbation responses form the frozen HepG2 benchmark substrate GSE293514 Stage B0 contributes 250 healthy-human-myoblast fusion hits and 125 individually validated genes No validated DMD perturbation prediction v1.2.0-measured-dmd-evidence Frozen 3 August 2026 Schema 1.1 Model ridge-safe-v2.3 Benchmark repeated-fold-v2.2 Build EA-20260804-49 DOI pending Open evidence boundary →

Disease evidence module · multidisease-evidence-v0.1.0

DM1 · Myotonic dystrophy type 1

Repeat excision and patient splicing are linked without collapsing PSI into expression.

Open module APICompare disease axes
Isogenic clones4 repeat + 4 no-repeat
Patient biopsies86 total
Patient exon-skipping967 events
Splicing convergence36 genes · p=1.35e-18

Primary reanalysis interpretation

Positive, null and negative axes stay separate.

Global expression correction is negligible (rho −0.04), but 36 splicing genes converge between the isogenic and patient axes (hypergeometric p=1.35×10⁻18). The mechanistic signal is splicing-specific.

Measured evidence

Patient state, causal/intervention axis and ceiling in one figure.

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DM1 disease evidence module showing measured data, intervention or correction analysis, null results and the claim boundary.

Datasets

Each object has a declared biological and statistical role.

CORRECTEDGSE127296 ↗

Patient-derived isogenic myoblast clones

4 repeat-bearing vs 4 no-repeat clones

DMPK CTG-repeat expression and splicing correction reference
MEASUREDGSE201255 ↗

Congenital and adult DM1 skeletal-muscle biopsies

86 samples; two documented repeat biopsies excluded from independent CDM inference

Patient expression and exon-skipping burden

Candidate establishment

Anchors, markers, endpoints and intervention nodes are typed—not pooled into one score.

ObjectRoleEvidence statePermitted interpretation
DMPKetiologic_anchorCORRECTEDEtiologic RNA-toxicity anchor
MBNL1splicing_regulatorCORRECTED+MEASUREDMechanism anchor; not a clinical rank
MBNL2splicing_regulatorCORRECTED+MEASUREDMechanism anchor; not a clinical rank
CLCN1functional_endpointMEASUREDFunctional splicing endpoint
BIN1functional_endpointMEASUREDFunctional splicing endpoint
INSRfunctional_endpointMEASUREDFunctional splicing endpoint
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

Machine-readable module

Summary, datasets, candidate logic and claim boundary are separate objects.

summary.json · datasets.json · candidate-logic.json · claim-boundary.json