Protocol

HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4)

One length bin of the DRAGEN CNV benchmark.

Overview

One length bin of the DRAGEN CNV benchmark.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

3 recorded evaluations, 9 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

3 evaluations · 9 results. Different protocols are not a single leaderboard.

Filter evaluations

Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: CNVnator comparator (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.99 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source CNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', L10; row >50,000; column CNVnator F-score
Configuration: CNVnator comparator (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.998 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 CNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', K10; row >50,000; column CNVnator Precision
Configuration: CNVnator comparator (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.982 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 CNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', J10; row >50,000; column CNVnator Recall
Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.996 f1-score 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 >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', D10; row >50,000; 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 >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.996 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 >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', C10; row >50,000; column DRAGEN4.2 (CNV) Precision
Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4)	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	0.996 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 >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', B10; row >50,000; column DRAGEN4.2 (CNV) Recall
Configuration: DRAGEN 4.2 CNV+SV configuration	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	1 f1-score 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+SV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', H10; row >50,000; column DRAGEN4.2 (CNV+SV) F-score
Configuration: DRAGEN 4.2 CNV+SV configuration	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	1 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+SV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', G10; row >50,000; column DRAGEN4.2 (CNV+SV) Precision
Configuration: DRAGEN 4.2 CNV+SV configuration	Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins	1 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+SV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb 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', F10; row >50,000; column DRAGEN4.2 (CNV+SV) Recall

Source checking is not independent reproduction. Release 2026-10-09-8eac2440869c.

Methods and evaluation design

Procedure, tasks and evaluated configurations

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

No execution recipe linked to this protocol. Recipe availability does not establish a completed evaluation.

Author-reported evaluations: 2
External evaluations: 1

Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.

Null control

Proposed control: requires review

Select a task-valid null control after reviewing inputs and metric

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Conventional reference

Proposed control: requires review

Select an upstream conventional reference after reviewing the full protocol

Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.

This is a suggested selection rule, not a validated method or a measured score.

Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)

Coverage is derived from release 2026-10-09-8eac2440869c. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

Run instructions

No runnable recipe has been reviewed for this protocol. Dataset access, model requirements, licences and compute requirements must be checked against its sources before execution.

Strengths, limitations and unresolved questions

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.

0 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-09-8eac2440869c
Property and statement	Original source and location	Review and provenance

No evidence rows match these filters. Choose another scope or clear the search.

All evidence (JSONL) (gzip)How to read the evidence

Sources and history

Release 2026-10-09-8eac2440869c · 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

Download this release (gzip)

Technical metadata and extraction receipts

Stable ID: cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb

areas: dna-genomes
contexts: clinical_research
protocol: Compare copy-number calls to >1 kb deletion records in GIAB SV v0.6; length bin printed as >50,000.
version: Table S4 row 10
limitations: Deletions in one reference sample only; no duplication, tumour or clinical endpoint.; CNVnator values in Table S4 and in the article prose differ for the 1-5 kb bin (AMP intake); prose not re-read here.
missing metadata: denominator: reason: unreported; note: Per-bin counts unreported; metric implementation: reason: unextracted; note: Exact CNV matching implementation unextracted

Related records

uses data: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins
assessment: CNVnator deletion >50,000
assessment: DRAGEN4.2 (CNV) deletion >50,000
assessment: DRAGEN4.2 (CNV+SV) deletion >50,000
assessed by: Select a copy-number variant detection and characterisation workflow

Suggest a correction