rewirebio.iobenchmarks
Evaluation

CADD on ABCA4 deep-intronic variants

Published comparison; transcribed, not reproduced.

Research readiness

These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.

Release 2026-10-10-6e93f504adfc · Evidence verified: Not verified

Evidence incomplete

Replay metrics

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Verified: Not verified

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Investigate discrepancies

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Verified: Not verified

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Verified: Not verified

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Read reviewed discrepancy investigations

Evaluation results

1 evaluation · 11 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: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
59% accuracy
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'Accuracy (%)'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
9 false-negative-count
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'FN'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
24 false-positive-count
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'FP'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
0.15 matthews-correlation-coefficient
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'MCC'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
0 count
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'Missing values'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
80% negative-predictive-value
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'NPV (%)'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
33% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'PPV (%)'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
57% recall
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'Sensitivity (%)'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
60% specificity
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'Specificity (%)'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
36 true-negative-count
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'TN'
Configuration: CADD (Riepe et al. 2021)Protocol: ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset: ABCA4 deep-intronic variants (Riepe et al. benchmark set)
12 true-positive-count
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CADD on ABCA4 deep-intronic variants

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Aggregation: Not reported

Benchmarking deep learning splice prediction tools using functional splice assays · Table 4 row 'CADD', column 'TP'

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

Evaluation procedure

splicing-follow-up-20261009-protocol-riepe2021-abca4-di

Configuration
CADD (Riepe et al. 2021)
Protocol
ABCA4 deep-intronic variants: classification against mini- or midigene splicing results (Riepe et al. Table 4)
Dataset
ABCA4 deep-intronic variants (Riepe et al. benchmark set)
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-09
dataset version
Riepe et al. Table S1 (as published)
split
No split
population
81 variants
inputs
Variant (GRCh37) as VCF, FASTA window or Alamut session, per tool
adaptation
Per-data-set cutoff
metric implementation
Not reported
aggregation
Pooled over the data set
budget
Not reported
protocol id
splicing-follow-up-20261009-protocol-riepe2021-abca4-di

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

Reproduction

Split
No split
Adaptation
Per-data-set cutoff
Scoring implementation
Not reported

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

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

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

18 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-6e93f504adfc
Property and statementOriginal source and locationReview and provenance
attributes.comparison.adaptation
Per-data-set cutoff
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.aggregation
Pooled over the data set
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.budget
Not reported
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.dataset_version
Riepe et al. Table S1 (as published)
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.inputs
Variant (GRCh37) as VCF, FASTA window or Alamut session, per tool
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.metric_implementation
Not reported
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.metric_implementation

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.population
81 variants
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.population

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.protocol_id
splicing-follow-up-20261009-protocol-riepe2021-abca4-di
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.protocol_id

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.comparison.split
No split
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.split

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.origin
independent_paper
Context-only references
Benchmarking deep learning splice prediction tools using functional splice assays

Original source ↗

Table 4 row 'CADD'

Version: Human Mutation 42(7):799, published online 2021-05-20; PMC8360004 full-text XML
Retrieved: 2026-10-09T20:52:02Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.origin

Source artifact SHA-256: 595be5360a9d3d421c4d4b6adda30175b4048e1aa0b563eb7afd2b7850277112

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Sources and history

Release 2026-10-10-6e93f504adfc · Record review: source checked

1 source records and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: splicing-follow-up-20261009-eval-riepe2021-abca4-di-cadd-1-6

areas
dna-genomes
contexts
research
origin
independent_paper
protocol
splicing-follow-up-20261009-protocol-riepe2021-abca4-di
version
Primary source as retrieved 2026-10-09
comparison
dataset version: Riepe et al. Table S1 (as published); split: No split; population: 81 variants; inputs: Variant (GRCh37) as VCF, FASTA window or Alamut session, per tool; adaptation: Per-data-set cutoff; metric implementation: Not reported; aggregation: Pooled over the data set; budget: Not reported; protocol id: splicing-follow-up-20261009-protocol-riepe2021-abca4-di
source locator
Table 4 row 'CADD'
missing metadata
metric implementation: reason: unreported; note: Cutoff used in this table not stated
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