rewirebio.iobenchmarks
Evaluation

Control-FREEC on NA12878 WGS

Published CNV caller 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 2026-10-09-9307685239b3 · 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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • metric replay: verification is missing
  • annotations: verification is missing
  • dependence: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • recipe pinned: verification is missing
  • resource estimate: verification is missing

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.
  • artifact hashes: verification is missing
  • join integrity: verification is missing
  • score semantics: verification is missing
  • independent validation: verification is missing
  • overlap checked: verification is missing

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.

Read reviewed discrepancy investigations

Evaluation results

1 evaluation · 2 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: Control-FREEC (Gabrielaite et al. WGS)Protocol: NA12878 WGS CNV recall and precision, 1 bp overlap (Gabrielaite et al. Table S2)
Dataset: NA12878 WGS with the Haraksingh et al. 2017 gold-standard CNV set
0.267 precision
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Control-FREEC on NA12878 WGS

cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap

Aggregation: Not reported

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data; Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools) · Table S2.xlsx, sheet Supplementary_table2, K175; sample GB-WGS-NA12878; tool ControlFREEC; column precision
Configuration: Control-FREEC (Gabrielaite et al. WGS)Protocol: NA12878 WGS CNV recall and precision, 1 bp overlap (Gabrielaite et al. Table S2)
Dataset: NA12878 WGS with the Haraksingh et al. 2017 gold-standard CNV set
0.107 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

Control-FREEC on NA12878 WGS

cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap

Aggregation: Not reported

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data; Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools) · Table S2.xlsx, sheet Supplementary_table2, L175; sample GB-WGS-NA12878; tool ControlFREEC; column recall

Source checking is not independent reproduction. Release 2026-10-09-9307685239b3.

Evaluation procedure

cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap

Configuration
Control-FREEC (Gabrielaite et al. WGS)
Protocol
NA12878 WGS CNV recall and precision, 1 bp overlap (Gabrielaite et al. Table S2)
Dataset
NA12878 WGS with the Haraksingh et al. 2017 gold-standard CNV set
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-09
protocol id
cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap
dataset version
Haraksingh et al. 2017 NA12878 CNV set
split
Single sample
population
2,076 truth CNVs
inputs
NA12878 WGS >=30x, BWA-MEM hg19
adaptation
Not reported
metric implementation
Not reported
aggregation
Single sample
budget
Not reported

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

Reproduction

Split
Single sample
Adaptation
Not reported
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.

36 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-09-9307685239b3
Property and statementOriginal source and locationReview and provenance
attributes.comparison.adaptation
Not reported
Context-only references
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
Retrieved: 2026-10-09T15:21:28Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: d8e954e141a06601b11b986338e45b57a3d5a98ac9e85411895b0ca1249b790f

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

Inspected artifact

attributes.comparison.adaptation
Not reported
Context-only references
Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools)

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Retrieved: 2026-10-09T15:21:28Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: eb4bb389b248508531ca371ba80e004a573f4e85029583cff336f217307fde85

Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 3ecf626259edf3ee82a10b76a20be078382d4e7ecb4b4fa5145143c4d5ccbf51; cancers-13-06283-s001.zip 0fd70ccaf67605cfa4a05a6f65666bfa16812c75ac53f865860b6e8e7eb9deac. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only.

Inspected artifact

attributes.comparison.aggregation
Single sample
Context-only references
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: d8e954e141a06601b11b986338e45b57a3d5a98ac9e85411895b0ca1249b790f

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

Inspected artifact

attributes.comparison.aggregation
Single sample
Context-only references
Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools)

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: eb4bb389b248508531ca371ba80e004a573f4e85029583cff336f217307fde85

Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 3ecf626259edf3ee82a10b76a20be078382d4e7ecb4b4fa5145143c4d5ccbf51; cancers-13-06283-s001.zip 0fd70ccaf67605cfa4a05a6f65666bfa16812c75ac53f865860b6e8e7eb9deac. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only.

Inspected artifact

attributes.comparison.budget
Not reported
Context-only references
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
Retrieved: 2026-10-09T15:21:28Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: d8e954e141a06601b11b986338e45b57a3d5a98ac9e85411895b0ca1249b790f

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

Inspected artifact

attributes.comparison.budget
Not reported
Context-only references
Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools)

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Retrieved: 2026-10-09T15:21:28Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: eb4bb389b248508531ca371ba80e004a573f4e85029583cff336f217307fde85

Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 3ecf626259edf3ee82a10b76a20be078382d4e7ecb4b4fa5145143c4d5ccbf51; cancers-13-06283-s001.zip 0fd70ccaf67605cfa4a05a6f65666bfa16812c75ac53f865860b6e8e7eb9deac. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only.

Inspected artifact

attributes.comparison.dataset_version
Haraksingh et al. 2017 NA12878 CNV set
Context-only references
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: d8e954e141a06601b11b986338e45b57a3d5a98ac9e85411895b0ca1249b790f

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

Inspected artifact

attributes.comparison.dataset_version
Haraksingh et al. 2017 NA12878 CNV set
Context-only references
Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools)

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: eb4bb389b248508531ca371ba80e004a573f4e85029583cff336f217307fde85

Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 3ecf626259edf3ee82a10b76a20be078382d4e7ecb4b4fa5145143c4d5ccbf51; cancers-13-06283-s001.zip 0fd70ccaf67605cfa4a05a6f65666bfa16812c75ac53f865860b6e8e7eb9deac. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only.

Inspected artifact

attributes.comparison.inputs
NA12878 WGS >=30x, BWA-MEM hg19
Context-only references
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: d8e954e141a06601b11b986338e45b57a3d5a98ac9e85411895b0ca1249b790f

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

Inspected artifact

attributes.comparison.inputs
NA12878 WGS >=30x, BWA-MEM hg19
Context-only references
Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools)

Original source ↗

Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Retrieved: 2026-10-09T15:21:28Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: eb4bb389b248508531ca371ba80e004a573f4e85029583cff336f217307fde85

Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 3ecf626259edf3ee82a10b76a20be078382d4e7ecb4b4fa5145143c4d5ccbf51; cancers-13-06283-s001.zip 0fd70ccaf67605cfa4a05a6f65666bfa16812c75ac53f865860b6e8e7eb9deac. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only.

Inspected artifact

Sources and history

Release 2026-10-09-9307685239b3 · Record review: source checked

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

Stable ID: cnv-20261009-eval-gabrielaite2021-control-freec-na12878-wgs

areas
dna-genomes
contexts
clinical_research
origin
independent_paper
protocol
cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap
version
Primary source as retrieved 2026-10-09
comparison
protocol id: cnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap; dataset version: Haraksingh et al. 2017 NA12878 CNV set; split: Single sample; population: 2,076 truth CNVs; inputs: NA12878 WGS >=30x, BWA-MEM hg19; adaptation: Not reported; metric implementation: Not reported; aggregation: Single sample; budget: Not reported
source locator
Table S2.xlsx, sheet Supplementary_table2, row 175 (sample GB-WGS-NA12878, tool ControlFREEC)
missing metadata
metric implementation: reason: unreported; note: CNVbench scripts referenced (github.com/cphgeno/CNVbench) but no commit cited
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