| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
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| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
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| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
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| Configuration: FRASER2 v1.99.4 (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 | *Only identified with all cohort samples event-detected unitless · unknown Uncertainty: Not applicable Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
|---|
| Configuration: FRASER2 v1.99.4 (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 checkedMethods, coverage and sourceFRASER2 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 'FRASER2' |
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