rewirebio.iobenchmarks
Protocol

WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)

Sensitivity for experimentally labelled splice-disruptive SNVs at tool thresholds matched on genome-wide call rate.

8 evaluations · 30 results

Overview

Sensitivity for experimentally labelled splice-disruptive SNVs at tool thresholds matched on genome-wide call rate.

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

8 recorded evaluations, 30 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

8 evaluations · 30 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: ConSpliceML (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.965 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

ConSpliceML on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G9; row ConSpliceML, column WT1
Configuration: ConSpliceML (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
1 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

ConSpliceML on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G17; row Exon_ConSpliceML, column WT1
Configuration: ConSpliceML (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.938 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

ConSpliceML on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G25; row Intron_ConSpliceML, column WT1
Configuration: ConSpliceML (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.9 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

ConSpliceML on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G33; row Intron_NonCanon_ConSpliceML, column WT1
Configuration: HAL (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.24 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

HAL on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G2; row HAL, column WT1
Configuration: HAL (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.24 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

HAL on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G10; row Exon_HAL, column WT1
Configuration: MMSplice (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.719 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MMSplice on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G4; row MMSplice, column WT1
Configuration: MMSplice (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.4 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MMSplice on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G12; row Exon_MMSplice, column WT1
Configuration: MMSplice (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.969 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MMSplice on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G20; row Intron_MMSplice, column WT1
Configuration: MMSplice (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.95 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MMSplice on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G28; row Intron_NonCanon_MMSplice, column WT1
Configuration: Pangolin (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.667 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Pangolin on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G8; row Pangolin, column WT1
Configuration: Pangolin (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.36 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Pangolin on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G16; row Exon_Pangolin, column WT1
Configuration: Pangolin (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.906 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Pangolin on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G24; row Intron_Pangolin, column WT1
Configuration: Pangolin (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.85 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Pangolin on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G32; row Intron_NonCanon_Pangolin, column WT1
Configuration: S-Cap (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.952 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

S-Cap on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G3; row S-Cap, column WT1
Configuration: S-Cap (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.9 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

S-Cap on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G11; row Exon_S-Cap, column WT1
Configuration: S-Cap (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.969 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

S-Cap on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G19; row Intron_S-Cap, column WT1
Configuration: S-Cap (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.95 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

S-Cap on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G27; row Intron_NonCanon_S-Cap, column WT1
Configuration: SPANR (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.912 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SPANR on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G6; row SPANR, column WT1
Configuration: SPANR (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.96 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SPANR on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G14; row Exon_SPANR, column WT1
Configuration: SPANR (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.875 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SPANR on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G22; row Intron_SPANR, column WT1
Configuration: SPANR (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.8 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SPANR on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G30; row Intron_NonCanon_SPANR, column WT1
Configuration: SpliceAI (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.86 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G7; row SpliceAI, column WT1
Configuration: SpliceAI (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.8 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G15; row Exon_SpliceAI, column WT1
Configuration: SpliceAI (Smith and Kitzman 2023)Protocol: WT1 exon 9 saturation MPSA: transcriptome-normalised sensitivity at a 10% background call rate (Smith and Kitzman Table S2)
Dataset: WT1 exon 9 saturation MPSA (Smith and Kitzman benchmark set)
0.906 recall
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

SpliceAI on WT1 exon 9 saturation MPSA

splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

Aggregation: Not reported

Benchmarking splice variant prediction algorithms using massively parallel splicing assays; Smith and Kitzman 2023, Additional file 3 (Table S2) · Additional file 3 sheet 'Sensitivity 10% SDV', cell G23; row Intron_SpliceAI, column WT1

Source checking is not independent reproduction. Release 2026-10-10-6e93f504adfc.

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

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External evaluations
8

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

Proposed control: requires review

Training-set class prior where supervised fitting is permitted

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

Proposed control: requires review

Regularised classifier on simple permitted features, or protocol's conventional reference

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

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Strengths, limitations and unresolved questions

Evidence

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Evidence table

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Technical metadata and extraction receipts

Stable ID: splicing-follow-up-20261009-protocol-smith2023-wt1-exon9-mpsa-tn10

areas
dna-genomes
contexts
research
protocol
Label each benchmark variant splice-disruptive (SDV) or neutral as defined by its source study (intermediate variants removed). For each tool, take the score threshold at which it calls 10% of 500,000 random exonic and near-exonic background SNVs (MANE Select, internal coding exons +/- 100 bp) disruptive, and report sensitivity for benchmark SDVs at that threshold, overall and within exonic, intronic, and intronic-without-essential-splice-site variants.
version
Additional file 3 (Table S2) sheet 'Sensitivity 10% SDV'
source locator
Additional file 3 sheet 'Sensitivity 10% SDV', column 'WT1'; Methods 'Statistical methods' and 'Random background variant set'
limitations
Sensitivity only: the threshold fixes a genome-wide call rate, not specificity on the benchmark, so precision is not measured.; Per-dataset SDV and neutral counts are not printed in Table S2.; Blank cells (HAL intronic rows, FAS intronic columns) are not results and are not stored.; Masking setting for SpliceAI and Pangolin in Table S2 is not stated.; HAL scores exonic variants only and S-Cap only some variants (56.5% and 61.0% of the background unscored), so their thresholds rest on part of the background, and HAL's all-variant values equal its exonic values.; SpliceAI benchmark scores are from 1.3.1, but its threshold comes from 1.3 precomputed background scores whose distance and masking settings are not stated.
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