Protocol

Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2)

Whether each aberrant-splicing caller reported each established pathogenic splicing alteration as an outlier.

Overview

Whether each aberrant-splicing caller reported each established pathogenic splicing alteration as an outlier.

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

5 recorded evaluations, 80 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

5 evaluations · 80 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: 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'

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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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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection

areas: rna-transcriptomes
contexts: clinical_research
protocol: Run each caller on the muscle RNA-seq cohort, restricted to neuromuscular-disease genes; record Yes/No per known pathogenic splicing alteration (16 events in 15 cases, including two events in case 63 and the same CAPN3 variant in cases 37 and 69).
version: Table 2
source locator: Table 2 columns 'FRASER |dPSI| > 0.1' to 'rMATS-turbo'
limitations: Events are those the authors established, partly with these same callers, so recall is measured on events at least one method could reveal.; Cohort size per run is not stated in Table 2; Results imply the full 98-sample cohort, and the footnote marks the FRASER2 call for case 2 as found only with all cohort samples (missed in batch 1, n = 34).; LeafCutterMD is not designed to report intron retention, which was part of five events (Discussion).; No false-positive or per-sample workload counts in the table; outlier counts per sample are figure-only (Figure 2A).; Prose detection rates conflict: Results give FRASER2 68.7% (11/16), Discussion gives 66.6%.
missing metadata: denominator: reason: unreported; note: Samples analysed per caller run not printed in Table 2

Related records

uses data: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events
subject: reported_detection_rates: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection
assessment: FRASER |ΔPSI| > 0.1 on 16 known pathogenic muscle splicing events
assessment: FRASER |ΔPSI| > 0.3 on 16 known pathogenic muscle splicing events
assessment: FRASER2 on 16 known pathogenic muscle splicing events
assessment: LeafcutterMD on 16 known pathogenic muscle splicing events
assessment: rMATS‐turbo on 16 known pathogenic muscle splicing events
assessed by: Select a patient-RNA splicing-variant validation workflow

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