Protocol

OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2)

Aberrant-expression z-score of the affected gene in the sample carrying each known pathogenic splicing alteration.

Overview

Aberrant-expression z-score of the affected gene in the sample carrying each known pathogenic splicing alteration.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

1 recorded evaluation, 16 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

1 evaluation · 16 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−2.68 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 1 (case DMD1), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−4.98 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 2 (case DMD2), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−2.95 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 3 (case DMD3), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−3.89 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 4 (case 2*), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	0.6 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 5 (case 7*), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−0.2 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 6 (case 10), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−2.8 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 7 (case 22), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−1.02 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 8 (case 28), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	0 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 9 (case 37), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−2.89 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 10 (case 43*), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	0.2 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 11 (case 49), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−1.26 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 12 (case 61*), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−0.1 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 13 (case 63), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−0.1 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 14 (case 63), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−0.3 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 15 (case 69), column 'Aberrant expression (OUTRIDER z-score)'
Configuration: OUTRIDER v1.20.1 (Segarra-Casas et al.)	Protocol: OUTRIDER expression z-score at 16 known pathogenic splicing events in muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	−2.14 z-score unitless · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source OUTRIDER z-score at 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 16 (case 70), column 'Aberrant expression (OUTRIDER z-score)'

Source checking is not independent reproduction. Release 2026-10-09-ba02f2f4a36e.

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

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OUTRIDER z-score at 16 known pathogenic muscle splicing events

Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

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External evaluations: 1

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

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This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

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Coverage is derived from release 2026-10-09-ba02f2f4a36e. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

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Strengths, limitations and unresolved questions

Evidence

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Evidence table

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Sources and history

Release 2026-10-09-ba02f2f4a36e · Record review: source checked

1 source records and release history

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Original source · Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-protocol-segarracasas2025-outrider-zscore

areas: rna-transcriptomes
contexts: clinical_research
protocol: OUTRIDER on StringTie gene counts; z-score printed for the gene of each known pathogenic splicing event; bold marks a correct identification as aberrant outlier (table footnote).
version: Table 2
source locator: Table 2 column 'Aberrant expression (OUTRIDER z-score)'
limitations: Expression outlier status is indirect evidence for a splicing defect (for example via nonsense-mediated decay); in-frame events are not expected to change expression.; Outlier significance threshold is not printed in the table; bold formatting is the only call indicator.

Related records

uses data: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events
assessment: OUTRIDER z-score at 16 known pathogenic muscle splicing events
assessed by: Select a patient-RNA splicing-variant validation workflow

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