NMD-VCell Neuromuscular Virtual Cell Research Platform Neuromuscular Virtual Cell Platform · Evidence → perturbation → experiment → outcome NMD = neuromuscular disorders
For Reviewers Evidence Status Claims

Evidence Release 2026.08DMD context observedDMD candidate-conditioned prediction locked

View scientific status
Evidence freeze: 3 August 2026 P59 hold · scorer failure retained · no target score NAR working package · 6 main + 31 supplementary figures Resource: v1.2.0-measured-dmd-evidence Schema: 1.1 Open platform state → Open Trust Center → Open evidence dashboard → Open claim registry → Open release status →

Disease evidence module · multidisease-evidence-v0.2.0

FSHD · Facioscapulohumeral muscular dystrophy

Sparse patient-state activation is linked to a causal DUX4 time course and an analysis-plan-frozen membrane-injury extension.

Measured + induced · line-blocked directional extension
Open module APICompare diseases
Unified v0.2 contractstrict state + qualifiers · stable candidate IDs · unit structure · provenance · next experimentJSON Schema
Patient nuclei32,273
Donor-level inference1 FSHD2 + 1 control · descriptive
DUX4 time course24 samples · 4 wells/condition
14 h response6,986 genes · q<0.05, |LFC|≥1
Registered scRNA extension40,289 cells · 4 biological lines · directional

Interpretation and boundary

Positive, null and missing evidence remain separate.

GSE303359 adds 40,289 QC-retained cells from four biological lines and uses line-blocked repeated-injury pseudobulk. The lowest-FDR prespecified interaction module was DUX4_target (FDR 0.883). With two lines per genotype, this is directional state-localization evidence and promotes no candidate to VALIDATED.

Selected evidence figure

Measured context and claim ceiling stay visible together.

FSHD measured evidence and explicit claim boundary.

Analysis-plan-frozen single-cell extension · analyzed

GSE303359 localizes the signal without treating cells as replicates.

Summary JSON
Libraries8
Biological lines4
QC-retained cells40,289
Bounded localizationDUX4_target · FDR 0.883

Source study finding

Membrane injury increased DUX4 expression; ferroptotic stress and labile iron were linked to impaired FSHD membrane repair.

Bittel et al., iScience (2026) · DOI 10.1016/j.isci.2026.115781 ↗
FSHD analysis-plan-frozen single-cell extension with cell-state visualization and biological-line-level effects.

NMD-VCell reanalysis: line-blocked voom-limma pseudobulk with repeated baseline/injury measures. This extension refines state localization and the next experiment; it is not a public timestamped registration and does not validate a therapeutic target. The QC-table serialization repair is separately audited and did not modify statistical fields. The directly hosted disease vector is a byte-preserving gzip of the source SVG; raw vectors and standalone per-disease/combined PDFs remain checksum-addressed in the source release, while the synchronized v08.7 packet carries the publication figures.

Disease vector source (SVG.gz) Source release only · open manifestSynchronized manuscript/figure manifestQC audit PDF Source release only · open manifestAnalysis reportRun-attempt auditQC serialization auditAnalysis code

Dataset registry

Each object declares its biological/statistical unit.

MEASUREDGSE143452 ↗
DESCRIPTIVE

Patient-derived FSHD2 and control myotube nuclei

8 technical samples; 32,273 nuclei; 1 FSHD2 and 1 control donor

Unit: donor; one FSHD2 and one control donor, descriptive only
Role: Sparse DUX4-target state and heterogeneity
INDUCEDGSE205421 ↗

Inducible DUX4 human myoblasts

24 RNA-seq samples; 4 culture wells per condition; 2, 6 and 14 h

Unit: independent culture well; four wells per condition
Role: Causal timing and stress-intervention design
MEASUREDGSE303359 ↗
SINGLE_CELL_REANALYSISLINE_LEVEL_DIRECTIONALN2_LINES_PER_GENOTYPE

FSHD myoblast membrane-injury response

8 single-cell libraries; large raw matrix registered, not reanalyzed in v01

Unit: cell line/donor after technical-library aggregation; two FSHD and two healthy lines
Role: Current membrane-repair / ferroptotic-stress extension

Candidate establishment

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

ObjectRoleState + qualifiersPermitted interpretation / next experiment
DUX4
NMDVCELL:FSHD:CANDIDATE:DUX4
Identifiers & provenancemodule/endpoint
Datasets: GSE143452, GSE205421, GSE303359
Unit structure: donor; one FSHD2 and one control donor, descriptive only; independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
etiologic_anchorINDUCED
SINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Disease-initiating transcription factor; not a ranked output
Next missing experimentRetain as the disease reference axis; do not reinterpret it as a ranked therapeutic output.
DUXA
NMDVCELL:FSHD:CANDIDATE:DUXA
Identifiers & provenanceHGNC:32179 · ENSG00000258873
Datasets: GSE143452, GSE205421, GSE303359
Unit structure: donor; one FSHD2 and one control donor, descriptive only; independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
state_markerMEASURED
INDUCED_CONCORDANCESINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Downstream state marker; not therapeutic validation
Next missing experimentConfirm donor-level prevalence and intervention responsiveness in independent disease-relevant biological units.
ZSCAN4
NMDVCELL:FSHD:CANDIDATE:ZSCAN4
Identifiers & provenancemodule/endpoint
Datasets: GSE143452, GSE205421, GSE303359
Unit structure: donor; one FSHD2 and one control donor, descriptive only; independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
state_markerMEASURED
INDUCED_CONCORDANCESINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Downstream state marker; not therapeutic validation
Next missing experimentConfirm donor-level prevalence and intervention responsiveness in independent disease-relevant biological units.
LEUTX
NMDVCELL:FSHD:CANDIDATE:LEUTX
Identifiers & provenancemodule/endpoint
Datasets: GSE143452, GSE205421, GSE303359
Unit structure: donor; one FSHD2 and one control donor, descriptive only; independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
state_markerMEASURED
INDUCED_CONCORDANCESINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Downstream state marker; not therapeutic validation
Next missing experimentConfirm donor-level prevalence and intervention responsiveness in independent disease-relevant biological units.
MAPK8
NMDVCELL:FSHD:CANDIDATE:MAPK8
Identifiers & provenanceHGNC:6881 · ENSG00000107643
Datasets: GSE205421, GSE303359
Unit structure: independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
intervention_nodeMEASURED
SOURCE_REPORTED_INTERVENTIONSINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Experiment-design node; no patient efficacy claim
Next missing experimentProspectively perturb with replicate-aware controls and a prespecified disease-relevant endpoint.
MAPK14
NMDVCELL:FSHD:CANDIDATE:MAPK14
Identifiers & provenanceHGNC:6876 · ENSG00000112062
Datasets: GSE205421, GSE303359
Unit structure: independent culture well; four wells per condition; cell line/donor after technical-library aggregation; two FSHD and two healthy lines
intervention_nodeMEASURED
SOURCE_REPORTED_INTERVENTIONSINGLE_CELL_STATE_LOCALIZATIONNO_TARGET_PROMOTION
Experiment-design node; no patient efficacy claim
Next missing experimentProspectively perturb with replicate-aware controls and a prespecified disease-relevant endpoint.
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

Machine-readable module

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

summary · datasets · candidates · boundary