rewirebio.iobenchmarks
Evaluation

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

Published comparison transcribed from the pinned source; not reproduced.

Evaluation results

1 evaluation · 6 results. Different protocols are not a single leaderboard.

Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter) · Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)

Sorted by False negatives (exon level) (lower is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationFalse negatives (exon level)False positives (exon level)Precision (exon level)Recall (exon level)True positives (exon level)Count (exon level; reference CMA CNV exons in the evaluated set)
CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Evaluation94117,3400.0960.66218472788
All 6 result rows with coverage, uncertainty and sources
Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
941 False negatives (exon level)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'CNVkit' / 'Pre-filter'
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
17,340 False positives (exon level)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FP', column 'CNVkit' / 'Pre-filter'
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
0.096 Precision (exon level)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'PPV', column 'CNVkit' / 'Pre-filter'
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
2790 Count (exon level; reference CMA CNV exons in the evaluated set)
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Reference Truth set', column 'CNVkit' / 'Pre-filter'
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
0.662 Recall (exon level)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Sensitivity', column 'CNVkit' / 'Pre-filter'
Configuration: CNVkit v0.9.7, pre-filter (Hwang et al. 2026)Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
1850 True positives (exon level)
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

CNVkit (pre-filter) on 39 clinical exomes against CMA truth

cnv-20261011-hwang2026-protocol-pre-filter

Aggregation: Not reported

Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'TP', column 'CNVkit' / 'Pre-filter'

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

Research readiness

0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.

Readiness checks, gaps and artifacts

Release 2026-11-02-a7f03c9e55a5 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified
  • Sample annotations are recorded: not yet verified
  • Dependence between samples is assessed: not yet verified

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • A pinned run recipe exists: not yet verified
  • Compute requirements are estimated: not yet verified

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Independent validation data exist: not yet verified
  • Overlap with training data is checked: not yet verified

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Evaluation procedure

Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)

Configuration
CNVkit v0.9.7, pre-filter (Hwang et al. 2026)
Protocol
Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter)
Dataset
Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-11
dataset version
Korea University clinical WES and CMA, January 2021 to June 2023 (as published)
split
No split
population
39 CMA-positive individuals; 98 reference CNVs, 2,788 reference exons before filtering
inputs
Clinical exome alignments (GRCh37)
adaptation
Not reported
metric implementation
Exon-level sensitivity TP/(TP+FN) and PPV TP/(TP+FP) (Methods 2.4)
aggregation
Pooled over 39 individuals
budget
Not reported
protocol id
cnv-20261011-hwang2026-protocol-pre-filter

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

Reproduction

Split
No split
Adaptation
Not reported
Scoring implementation
Exon-level sensitivity TP/(TP+FN) and PPV TP/(TP+FP) (Methods 2.4)

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 2026-11-02-a7f03c9e55a5
Property and statementOriginal source and locationReview and provenance
Comparison: adaptation
Not reported
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: aggregation
Pooled over 39 individuals
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: budget
Not reported
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: dataset version
Korea University clinical WES and CMA, January 2021 to June 2023 (as published)
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: inputs
Clinical exome alignments (GRCh37)
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: metric implementation
Exon-level sensitivity TP/(TP+FN) and PPV TP/(TP+FP) (Methods 2.4)
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.metric_implementation

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: population
39 CMA-positive individuals; 98 reference CNVs, 2,788 reference exons before filtering
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.population

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: protocol id
cnv-20261011-hwang2026-protocol-pre-filter
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.protocol_id

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Comparison: split
No split
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.split

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

Origin
independent_paper
Context-only references
Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026)

Original source ↗

Table 4 column 'CNVkit' / 'Pre-filter'

Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML
Retrieved: 2026-10-11T21:36:59Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.origin

Source artifact SHA-256: ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d

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

Inspected artifact

How to read the evidence

Sources and history

Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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

Stable ID: cnv-20261011-hwang2026-eval-pre-filter-cnvkit

areas
dna-genomes
contexts
clinical_research
origin
independent_paper
protocol
cnv-20261011-hwang2026-protocol-pre-filter
version
Primary source as retrieved 2026-10-11
comparison
dataset version: Korea University clinical WES and CMA, January 2021 to June 2023 (as published); split: No split; population: 39 CMA-positive individuals; 98 reference CNVs, 2,788 reference exons before filtering; inputs: Clinical exome alignments (GRCh37); adaptation: Not reported; metric implementation: Exon-level sensitivity TP/(TP+FN) and PPV TP/(TP+FP) (Methods 2.4); aggregation: Pooled over 39 individuals; budget: Not reported; protocol id: cnv-20261011-hwang2026-protocol-pre-filter
source locator
Table 4 column 'CNVkit' / 'Pre-filter'
missing metadata
comparison.adaptation: reason: inapplicable; note: No training on the evaluation data; comparison.budget: reason: unreported
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