Disease evidence module · multidisease-evidence-v0.2.0

DM1 · Myotonic dystrophy type 1

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

Measured splicing · isogenic correction

Unified v0.2 contractstrict state + qualifiers · stable candidate IDs · unit structure · provenance · next experimentJSON Schema

Isogenic clones4 repeat + 4 no-repeat

Patient biopsies86 total

Patient exon-skipping967 events

Splicing convergence36 genes · p=1.35e-18

Interpretation and boundary

Positive, null and missing evidence remain separate.

Global expression correction is negligible (rho −0.04), but 36 splicing genes converge between isogenic and patient axes. The mechanistic result is splicing-specific.

Selected evidence figure

Measured context and claim ceiling stay visible together.

DM1 measured evidence and explicit claim boundary.

Dataset registry

Each object declares its biological/statistical unit.

CORRECTEDGSE127296 ↗

Patient-derived isogenic myoblast clones

4 repeat-bearing vs 4 no-repeat clones

Unit: independently derived isogenic clone
Role: 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

Unit: independent skeletal-muscle biopsy
Role: Patient expression and exon-skipping burden

Candidate establishment

Role-typed objects link directly to the next missing experiment.

Object	Role	State + qualifiers	Permitted interpretation / next experiment
DMPK `NMDVCELL:DM1:CANDIDATE:DMPK` Identifiers & provenance HGNC:2933 · ENSG00000104936 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	etiologic_anchor	CORRECTED	Etiologic RNA-toxicity anchor Next missing experiment Retain as the disease reference axis; do not reinterpret it as a ranked therapeutic output.
MBNL1 `NMDVCELL:DM1:CANDIDATE:MBNL1` Identifiers & provenance HGNC:6923 · ENSG00000152601 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	splicing_regulator	CORRECTED PATIENT_MEASURED_CONVERGENCE	Mechanism anchor; not a clinical rank Next missing experiment Measure event-level splice correction and functional consequence in clone-aware and patient-derived validation.
MBNL2 `NMDVCELL:DM1:CANDIDATE:MBNL2` Identifiers & provenance HGNC:16746 · ENSG00000139793 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	splicing_regulator	CORRECTED PATIENT_MEASURED_CONVERGENCE	Mechanism anchor; not a clinical rank Next missing experiment Measure event-level splice correction and functional consequence in clone-aware and patient-derived validation.
CLCN1 `NMDVCELL:DM1:CANDIDATE:CLCN1` Identifiers & provenance HGNC:2019 · ENSG00000188037 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	functional_endpoint	MEASURED	Functional splicing endpoint Next missing experiment Measure the named splice/functional endpoint after correction in independent biological units.
BIN1 `NMDVCELL:DM1:CANDIDATE:BIN1` Identifiers & provenance HGNC:1052 · ENSG00000136717 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	functional_endpoint	MEASURED	Functional splicing endpoint Next missing experiment Measure the named splice/functional endpoint after correction in independent biological units.
INSR `NMDVCELL:DM1:CANDIDATE:INSR` Identifiers & provenance HGNC:6091 · ENSG00000171105 Datasets: GSE127296, GSE201255 Unit structure: independently derived isogenic clone; independent skeletal-muscle biopsy	functional_endpoint	MEASURED	Functional splicing endpoint Next missing experiment Measure the named splice/functional endpoint after correction in independent biological units.

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 · datasets · candidates · boundary