Configuration

FRASER v1.8.1, |dPSI| > 0.3 (Segarra-Casas et al.)

FRASER with effect-size cutoff |delta PSI| > 0.3.

Overview

FRASER with effect-size cutoff |delta PSI| > 0.3.

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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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\| > 0.3 (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'
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 10 (case 43*), 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 11 (case 49), 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 12 (case 61*), 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 13 (case 63), 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 14 (case 63), 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 15 (case 69), 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 16 (case 70), column 'FRASER \|ΔPSI\| > 0.3'

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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-fraser-dpsi-0-3

areas: rna-transcriptomes
contexts: clinical_research
method types: conventional_pipeline
reported name: FRASER v1.8.1, |dPSI| > 0.3 (Segarra-Casas et al.)
foundation model eligible: false
version: v1.8.1
parameters: |delta PSI| > 0.3; analysis restricted to neuromuscular-disease genes
source locator: Methods 'Aberrant Splicing'; Table 2 column header

Related records

configuration of: FRASER
system: FRASER |ΔPSI| > 0.3 on 16 known pathogenic muscle splicing events

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