Configuration

OUTRIDER v1.20.1 (Segarra-Casas et al.)

OUTRIDER on StringTie gene counts.

Overview

OUTRIDER on StringTie gene counts.

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

Evaluations and results

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

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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)'

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

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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-config-segarracasas2025-outrider

areas: rna-transcriptomes
contexts: clinical_research
method types: conventional_pipeline
reported name: OUTRIDER v1.20.1 (Segarra-Casas et al.)
foundation model eligible: false
version: v1.20.1
source locator: Methods 'Gene Expression'

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configuration of: OUTRIDER
system: OUTRIDER z-score at 16 known pathogenic muscle splicing events

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