Dataset

Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events

Clinical muscle-biopsy RNA-seq from individuals with suspected muscle disease and no diagnosis after exome sequencing.

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Release 2026-10-10-7b8f80935f90 · Evidence verified: Not verified

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Evaluation results

6 evaluations · 96 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 1 (case DMD1), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 2 (case DMD2), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 3 (case DMD3), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 4 (case 2*), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 5 (case 7*), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 6 (case 10), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 7 (case 22), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 8 (case 28), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 9 (case 37), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 10 (case 43*), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 11 (case 49), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 12 (case 61*), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 13 (case 63), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 14 (case 63), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 15 (case 69), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.1 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.1 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 16 (case 70), column 'FRASER \|ΔPSI\| > 0.1'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 1 (case DMD1), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 2 (case DMD2), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 3 (case DMD3), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 4 (case 2*), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 5 (case 7*), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	Yes event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 6 (case 10), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 7 (case 22), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 8 (case 28), column 'FRASER \|ΔPSI\| > 0.3'
Configuration: FRASER v1.8.1, \|dPSI\| > 0.3 (Segarra-Casas et al.)	Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2) Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events	No event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source FRASER \|ΔPSI\| > 0.3 on 16 known pathogenic muscle splicing events rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Aggregation: Not reported Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 9 (case 37), column 'FRASER \|ΔPSI\| > 0.3'

Source checking is not independent reproduction. Release 2026-10-10-7b8f80935f90.

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8 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-7b8f80935f90
Property and statement	Original source and location	Review and provenance
attributes.assay Total RNA, Illumina Stranded Total RNA Prep with Ribo-Zero Plus, NovaSeq 6000 150 bp paired-end; HISAT2 to GRCh37 Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.assay` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.population 98 muscle RNA-seq samples in three sequencing batches (batch 1: 34 samples, 29 cases and 5 controls); 70 participants with suspected muscle disease per the Introduction; 16 pathogenic splicing alterations identified across all 98 samples. Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.reuse_restrictions Raw data not publicly available (ethics); available from the corresponding author on reasonable request Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.reuse_restrictions` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.source_locator Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.split No split; retrospective detection of known events Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.version As published (raw data not shared) Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
description Clinical muscle-biopsy RNA-seq from individuals with suspected muscle disease and no diagnosis after exome sequencing. Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `description` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
name Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	not individually reviewed No individual claim review recorded Audit details Field: `name` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Release 2026-10-10-7b8f80935f90 · 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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Stable ID: rna-splicing-20261009-data-segarracasas2025-muscle-rnaseq

areas: rna-transcriptomes
contexts: clinical_research
version: As published (raw data not shared)
assay: Total RNA, Illumina Stranded Total RNA Prep with Ribo-Zero Plus, NovaSeq 6000 150 bp paired-end; HISAT2 to GRCh37
population: 98 muscle RNA-seq samples in three sequencing batches (batch 1: 34 samples, 29 cases and 5 controls); 70 participants with suspected muscle disease per the Introduction; 16 pathogenic splicing alterations identified across all 98 samples.
split: No split; retrospective detection of known events
reuse restrictions: Raw data not publicly available (ethics); available from the corresponding author on reasonable request
source locator: Introduction paragraph 3; Methods 'RNA Extraction, Library Preparation, and Sequencing' and 'RNAseq Data Analysis'; Results 'Aberrant Splicing Detection' paragraphs 1 and 3; Data Availability

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