rewirebio.iobenchmarks
Evaluation

HS-F on Coriell virtual panel

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 · 6 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: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
100% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '1' / '0.5–1', column 'Precision HS-F (%)' (exons spanned block)
Configuration: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
81% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '2–5' / '1–10', column 'Precision HS-F (%)' (exons spanned block)
Configuration: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
68% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '>5' / '>10', column 'Precision HS-F (%)' (exons spanned block)
Configuration: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
100% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '1' / '0.5–1', column 'Precision HS-F (%)' (CNV length block)
Configuration: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
89% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '2–5' / '1–10', column 'Precision HS-F (%)' (CNV length block)
Configuration: DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)Protocol: Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset: 25 Coriell cell lines with documented CNVs, 184-gene virtual panel
74% precision
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

HS-F on Coriell virtual panel

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Aggregation: Not reported

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Table 1, row '>5' / '>10', column 'Precision HS-F (%)' (CNV length block)

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

Evaluation procedure

cnv-20261009-protocol-delavega2025-coriell-virtual-panel

Configuration
DRAGEN 4.2 high-sensitivity mode with custom artifact filters (HS-F)
Protocol
Coriell virtual gene-panel CNV precision by exon count and length (De La Vega et al. Table 1)
Dataset
25 Coriell cell lines with documented CNVs, 184-gene virtual panel
origin
Author-reported evaluation
configuration
Primary source as retrieved 2026-10-09
protocol id
cnv-20261009-protocol-delavega2025-coriell-virtual-panel
dataset version
Coriell annotations curated by authors
split
25 cell lines
population
Coding exons of 184 genes
inputs
50x PCR-free WGS
adaptation
Not reported
metric implementation
Not reported
aggregation
Pooled across cell lines, per stratum
budget
Not reported

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

Reproduction

Split
25 cell lines
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.

19 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
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

missing or unspecified

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.aggregation
Pooled across cell lines, per stratum
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.budget
Not reported
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

missing or unspecified

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.dataset_version
Coriell annotations curated by authors
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.inputs
50x PCR-free WGS
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.metric_implementation
Not reported
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

missing or unspecified

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.metric_implementation

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.population
Coding exons of 184 genes
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.population

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.protocol_id
cnv-20261009-protocol-delavega2025-coriell-virtual-panel
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.protocol_id

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.comparison.split
25 cell lines
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.comparison.split

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

attributes.limitations
1 values
  • DRAGEN developer (Illumina) employees are co-authors
Context-only references
Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications

Original source ↗

Table 1

Version: Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
Retrieved: 2026-10-09T15:24:22Z

not individually reviewed

No individual claim review recorded

author reported

Source has a recorded evidence concern. Consult its source page before using the claim.

Audit details

Field: attributes.limitations

Source artifact SHA-256: ed6492f89d77454416d4fb135bb56bdcd5fb202e8a0ba94b92fa450441b4091f

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

Inspected artifact

Sources and history

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

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

Stable ID: cnv-20261009-eval-delavega2025-dragen42-hs-filters-coriell-panel

areas
dna-genomes
contexts
clinical_research
origin
author_reported
protocol
cnv-20261009-protocol-delavega2025-coriell-virtual-panel
version
Primary source as retrieved 2026-10-09
comparison
protocol id: cnv-20261009-protocol-delavega2025-coriell-virtual-panel; dataset version: Coriell annotations curated by authors; split: 25 cell lines; population: Coding exons of 184 genes; inputs: 50x PCR-free WGS; adaptation: Not reported; metric implementation: Not reported; aggregation: Pooled across cell lines, per stratum; budget: Not reported
source locator
Table 1
missing metadata
denominator: reason: unreported
limitations
DRAGEN developer (Illumina) employees are co-authors
Related records

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