Evaluation

LeafcutterMD on 16 known pathogenic muscle splicing events

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Evaluation 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: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'
Configuration: LeafCutterMD v0.2.7 (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 LeafcutterMD 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 'LeafcutterMD'

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

Evaluation procedure

rna-splicing-20261009-protocol-segarracasas2025-known-event-detection

Configuration: LeafCutterMD v0.2.7 (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

origin: Independent external evaluation
configuration: Primary source as retrieved 2026-10-09
dataset version: Segarra-Casas et al. muscle RNA-seq cohort (as published)
split: No split
population: 16 known pathogenic splicing alterations in 15 cases; 98-sample muscle RNA-seq cohort
inputs: Muscle-biopsy total RNA-seq, HISAT2 alignment to GRCh37, neuromuscular-disease gene set
adaptation: Not reported
metric implementation: Not reported
aggregation: Per event
budget: Not reported
protocol id: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split: No split
Adaptation: Not reported
Scoring implementation: Not reported

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Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

Evidence

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Evidence table

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18 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.comparison.adaptation Not reported Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.aggregation Per event Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.budget Not reported Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.dataset_version Segarra-Casas et al. muscle RNA-seq cohort (as published) Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.inputs Muscle-biopsy total RNA-seq, HISAT2 alignment to GRCh37, neuromuscular-disease gene set Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.metric_implementation Not reported Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.metric_implementation` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.population 16 known pathogenic splicing alterations in 15 cases; 98-sample muscle RNA-seq cohort Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.population` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.protocol_id rna-splicing-20261009-protocol-segarracasas2025-known-event-detection Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.protocol_id` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.split No split Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.comparison.split` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.origin independent_paper Context-only references	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 column 'LeafcutterMD' 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 independent paper Audit details Field: `attributes.origin` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Sources and history

Release 2026-10-10-7b8f80935f90 · Record review: source checked

1 source records and release history

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-eval-segarracasas2025-leafcutter

areas: rna-transcriptomes
contexts: clinical_research
origin: independent_paper
protocol: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection
version: Primary source as retrieved 2026-10-09
comparison: dataset version: Segarra-Casas et al. muscle RNA-seq cohort (as published); split: No split; population: 16 known pathogenic splicing alterations in 15 cases; 98-sample muscle RNA-seq cohort; inputs: Muscle-biopsy total RNA-seq, HISAT2 alignment to GRCh37, neuromuscular-disease gene set; adaptation: Not reported; metric implementation: Not reported; aggregation: Per event; budget: Not reported; protocol id: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection
source locator: Table 2 column 'LeafcutterMD'
missing metadata: metric implementation: reason: unreported; note: Caller significance cutoffs beyond the printed |dPSI| thresholds are in File S1, not read

Related records

system: LeafCutterMD v0.2.7 (Segarra-Casas et al.)
assessment: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2)
data: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events
evaluation: segarracasas2025-leafcutter-event-01 event-detected
evaluation: segarracasas2025-leafcutter-event-02 event-detected
evaluation: segarracasas2025-leafcutter-event-03 event-detected
evaluation: segarracasas2025-leafcutter-event-04 event-detected
evaluation: segarracasas2025-leafcutter-event-05 event-detected
evaluation: segarracasas2025-leafcutter-event-06 event-detected
evaluation: segarracasas2025-leafcutter-event-07 event-detected
evaluation: segarracasas2025-leafcutter-event-08 event-detected
evaluation: segarracasas2025-leafcutter-event-09 event-detected
evaluation: segarracasas2025-leafcutter-event-10 event-detected
evaluation: segarracasas2025-leafcutter-event-11 event-detected
evaluation: segarracasas2025-leafcutter-event-12 event-detected
evaluation: segarracasas2025-leafcutter-event-13 event-detected
evaluation: segarracasas2025-leafcutter-event-14 event-detected
evaluation: segarracasas2025-leafcutter-event-15 event-detected
evaluation: segarracasas2025-leafcutter-event-16 event-detected

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