Evaluation

DRAGEN4.2 (CNV) deletion [1,000-5,000)

Published CNV caller comparison; transcribed, not reproduced.

Evaluation results

1 evaluation · 3 results. Different protocols are not a single leaderboard.

Protocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score · Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset

Sorted by F1 (higher 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 configuration	F1	Precision	Recall
DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)Evaluation	NaN	0	0

All 3 result rows with coverage, uncertainty and sources

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset	NaN F1 fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source DRAGEN4.2 (CNV) deletion [1,000-5,000) 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', D6; row [1,000-5,000); column DRAGEN4.2 (CNV) F-score
Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset	0 Precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source DRAGEN4.2 (CNV) deletion [1,000-5,000) 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', C6; row [1,000-5,000); column DRAGEN4.2 (CNV) Precision
Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset	0 Recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source DRAGEN4.2 (CNV) deletion [1,000-5,000) 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', B6; row [1,000-5,000); column DRAGEN4.2 (CNV) Recall

Source checking is not independent reproduction. Release 2026-10-10-457d7eaef7d6.

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Release 2026-10-10-457d7eaef7d6 · Evidence verified: Not verified

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Evaluation procedure

HG002 GIAB v0.6 CNV deletion 1–5kb F-score

Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)
Protocol: HG002 GIAB v0.6 CNV deletion 1–5kb F-score
Dataset: HG002 35× WGS, GIAB SV v0.6 deletion subset

origin: Author-reported evaluation
configuration: Primary source as retrieved 2026-10-09
adaptation: Not reported
aggregation: Single sample and length bin
budget: Not reported
dataset version: GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons
inputs: 35× WGS; GRCh37 GIAB v0.6 deletion truth
metric implementation: Not reported
population: SingleHG002; [1000,5000)bp truth deletions, exact count unreported
protocol id: amp-protocol-hg002-cnv-1-5kb
split: Single HG002 benchmark sample

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

Reproduction

Split: Single HG002 benchmark sample
Adaptation: Not reported
Scoring implementation: Not reported

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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

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Evidence table

Inspect claims, sources and review details

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36 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-457d7eaef7d6
Property and statement	Original source and location	Review and provenance
Comparison: adaptation Not reported Context-only references	Comprehensive genome analysis and variant detection at scale using DRAGEN Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: adaptation Not reported Context-only references	DRAGEN supplementary tables 1–17 Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: aggregation Single sample and length bin Context-only references	Comprehensive genome analysis and variant detection at scale using DRAGEN Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: aggregation Single sample and length bin Context-only references	DRAGEN supplementary tables 1–17 Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: budget Not reported Context-only references	Comprehensive genome analysis and variant detection at scale using DRAGEN Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: budget Not reported Context-only references	DRAGEN supplementary tables 1–17 Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: dataset 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 ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: dataset version GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons Context-only references	DRAGEN supplementary tables 1–17 Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: inputs 35× WGS; GRCh37 GIAB v0.6 deletion truth Context-only references	Comprehensive genome analysis and variant detection at scale using DRAGEN Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `84abe921f340f9c8d7cf11ddd3cf5adc8e7a034db9d53f0d4e2fe292e94c1a6d` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact
Comparison: inputs 35× WGS; GRCh37 GIAB v0.6 deletion truth Context-only references	DRAGEN supplementary tables 1–17 Original source ↗ Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6 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 author reported Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `edf36c4d94f2f68ce26fe2d7edfb0dfdc8e4d1774367ff10551dc32cc280b74e` Hash scope: Hash scope not separately documented; inspect source record Format: curator_factual_receipt Inspected artifact

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Sources and history

Release 2026-10-10-457d7eaef7d6 · Record review: source checked

2 source records and release history

Comprehensive genome analysis and variant detection at scale using DRAGEN · Original source · 2024-10-25 version of record; code-availability correction 2024-12-02; July 2025 issue
DRAGEN supplementary tables 1–17 · Original source · MOESM3 XLSX retrieved 2026-10-07

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Technical metadata and extraction receipts

Stable ID: cnv-20261009-eval-behera2024-dragen42-cnv-1-5kb

areas: dna-genomes
contexts: clinical_research
origin: author_reported
protocol: amp-protocol-hg002-cnv-1-5kb
version: Primary source as retrieved 2026-10-09
comparison: adaptation: Not reported; aggregation: Single sample and length bin; budget: Not reported; dataset version: GIAB SV v0.6, GRCh37 reference for SV/CNV comparisons; inputs: 35× WGS; GRCh37 GIAB v0.6 deletion truth; metric implementation: Not reported; population: SingleHG002; [1000,5000)bp truth deletions, exact count unreported; protocol id: amp-protocol-hg002-cnv-1-5kb; split: Single HG002 benchmark sample
source locator: Supplementary Tables XLSX sheet 'S4 CNV benchmarking', columns B-D, row 6
missing metadata: denominator: reason: unreported; note: Unreported per bin; metric implementation: reason: unextracted; note: Matching implementation unextracted

Related records

system: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)
assessment: HG002 GIAB v0.6 CNV deletion 1–5kb F-score
data: HG002 35× WGS, GIAB SV v0.6 deletion subset
evaluation: behera2024-dragen42-cnv-1-5kb f1-score (deletions, [1,000-5,000) bp)
evaluation: behera2024-dragen42-cnv-1-5kb precision (deletions, [1,000-5,000) bp)
evaluation: behera2024-dragen42-cnv-1-5kb recall (deletions, [1,000-5,000) bp)

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