rewirebio.iobenchmarks
Dataset

HG002 35× WGS, GIAB SV v0.6 deletion subset

Scoped author-reported evidence candidate; no clinical recommendation.

Research readiness

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

Release 2026-10-07-1448159e6a81 · 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 · 1 result. 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 CNV+SV configurationProtocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score
Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset
0.926 F-score
fraction · higher

Uncertainty: Not reported

Coverage: Not reported scored / Not reported eligible

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

DRAGEN CNV+SV deletion1–5kb

amp-protocol-hg002-cnv-1-5kb

Aggregation: Not reported

Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', H6; A6=[1,000-5,000), F6=.873 recall, G6=.986 precision; Results CNV paragraph and Fig2f

Source checking is not independent reproduction. Release 2026-10-07-1448159e6a81.

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

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.

12 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-07-1448159e6a81
Property and statementOriginal source and locationReview and provenance
attributes.population
HG002 Illumina NovaSeq 6000 2×151bp 35× WGS; truth restricted to >1kbp deletion SV records, selected [1000,5000) length bin. Exact truth count/TP/FP/FN per bin unreported in Table S4.
Context-only references
Comprehensive genome analysis and variant detection at scale using DRAGEN

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
Retrieved: 2026-10-07T12:24:43.812919+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.population

Source artifact SHA-256: 84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d

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

Format: curator_factual_receipt

Inspected artifact

attributes.population
HG002 Illumina NovaSeq 6000 2×151bp 35× WGS; truth restricted to >1kbp deletion SV records, selected [1000,5000) length bin. Exact truth count/TP/FP/FN per bin unreported in Table S4.
Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.population

Source artifact SHA-256: edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e

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

Format: curator_factual_receipt

Inspected artifact

attributes.source_locator
Results Resolving the complete variant spectrum; Fig2f; Table S4 row6
Context-only references
Comprehensive genome analysis and variant detection at scale using DRAGEN

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
Retrieved: 2026-10-07T12:24:43.812919+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: 84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d

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

Format: curator_factual_receipt

Inspected artifact

attributes.source_locator
Results Resolving the complete variant spectrum; Fig2f; Table S4 row6
Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.source_locator

Source artifact SHA-256: edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e

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

Format: curator_factual_receipt

Inspected artifact

attributes.split
Single HG002 benchmark sample
Context-only references
Comprehensive genome analysis and variant detection at scale using DRAGEN

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
Retrieved: 2026-10-07T12:24:43.812919+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: 84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d

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

Format: curator_factual_receipt

Inspected artifact

attributes.split
Single HG002 benchmark sample
Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.split

Source artifact SHA-256: edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e

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

Format: curator_factual_receipt

Inspected artifact

attributes.version
GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons
Context-only references
Comprehensive genome analysis and variant detection at scale using DRAGEN

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
Retrieved: 2026-10-07T12:24:43.812919+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.version

Source artifact SHA-256: 84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d

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

Format: curator_factual_receipt

Inspected artifact

attributes.version
GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons
Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.version

Source artifact SHA-256: edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e

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

Format: curator_factual_receipt

Inspected artifact

description
Scoped author-reported evidence candidate; no clinical recommendation.
Context-only references
Comprehensive genome analysis and variant detection at scale using DRAGEN

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
Retrieved: 2026-10-07T12:24:43.812919+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: 84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d

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

Format: curator_factual_receipt

Inspected artifact

description
Scoped author-reported evidence candidate; no clinical recommendation.
Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

Results Resolving the complete variant spectrum; Fig2f; Table S4 row6

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

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

not individually reviewed

No individual claim review recorded

Audit details

Field: description

Source artifact SHA-256: edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e

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

Format: curator_factual_receipt

Inspected artifact

Sources and history

View linked audit checks and correction history

Release 2026-10-07-1448159e6a81 · Record review: source checked

2 source records and release historyDownload this release
Technical metadata and extraction receipts

Stable ID: amp-data-hg002-giab-sv06-cnv

areas
dna-genomes
contexts
clinical_research
missing metadata
denominator: No per-bin count in Table S4; 1156 overall CNV calls is not the truth denominator
population
HG002 Illumina NovaSeq 6000 2×151bp 35× WGS; truth restricted to >1kbp deletion SV records, selected [1000,5000) length bin. Exact truth count/TP/FP/FN per bin unreported in Table S4.
source locator
Results Resolving the complete variant spectrum; Fig2f; Table S4 row6
split
Single HG002 benchmark sample
version
GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons
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