Evaluation

Lumpy on HG002 exon-overlap benchmark

Published CNV caller comparison; transcribed, not reproduced.

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Release 2026-10-09-8eac2440869c · Evidence verified: Not verified

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Evaluation results

1 evaluation · 22 results. Different protocols are not a single leaderboard.

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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: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0104 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, C13; row 'Lumpy'; group 'deletions, 1-5 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, E13; row 'Lumpy'; group 'duplications, 1-5 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.013 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, G13; row 'Lumpy'; group 'deletions, 5-10 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, I13; row 'Lumpy'; group 'duplications, 5-10 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0319 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, K13; row 'Lumpy'; group 'deletions, 10-50 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, M13; row 'Lumpy'; group 'duplications, 10-50 kb'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0003 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, O13; row 'Lumpy'; group 'deletions, 50 kb and over'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, Q13; row 'Lumpy'; group 'duplications, 50 kb and over'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0136 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, S13; row 'Lumpy'; group 'deletions, all sizes'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, U13; row 'Lumpy'; group 'duplications, all sizes'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0107 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, W13; row 'Lumpy'; group 'deletions and duplications combined'; column Precision
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0698 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, B13; row 'Lumpy'; group 'deletions, 1-5 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, D13; row 'Lumpy'; group 'duplications, 1-5 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.037 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, F13; row 'Lumpy'; group 'deletions, 5-10 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	NA recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, H13; row 'Lumpy'; group 'duplications, 5-10 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.188 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, J13; row 'Lumpy'; group 'deletions, 10-50 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, L13; row 'Lumpy'; group 'duplications, 10-50 kb'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0111 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, N13; row 'Lumpy'; group 'deletions, 50 kb and over'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	NA recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, P13; row 'Lumpy'; group 'duplications, 50 kb and over'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0868 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, R13; row 'Lumpy'; group 'deletions, all sizes'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, T13; row 'Lumpy'; group 'duplications, all sizes'; column Sensitivity
Configuration: LUMPY (De La Vega et al.)	Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3) Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models	0.0746 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Evidence concern: excluded from comparisons Results 3.1 paragraph 5 says CNVnator and Cue were unable to detect events of 1-5 kb, but Supplemental Table 3 prints CNVnator 1-5 kb deletion sensitivity 0.3098 and precision 0.4207 (B9, C9). Results 3.1 paragraph 3 says Delly had the lowest precision, but Table S3 prints lower combined precision for Lumpy (W13 0.0107) than Delly (W11 0.1902). The prose may describe Figures 1 and 3 rather than the table; this was not checked. Table values are recorded.Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Results 3.1 paragraphs 3 and 5 versus Supplemental_Table_3.xlsx B9, C9, W11, W13 Methods, coverage and source Lumpy on HG002 exon-overlap benchmark cnv-20261009-protocol-delavega2025-hg002-exon-overlap Aggregation: Not reported Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications; De La Vega et al. 2025, Supplemental Table 3 · Supplemental Table 3, V13; row 'Lumpy'; group 'deletions and duplications combined'; column Sensitivity

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

Evaluation procedure

cnv-20261009-protocol-delavega2025-hg002-exon-overlap

Configuration: LUMPY (De La Vega et al.)
Protocol: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3)
Dataset: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models

origin: Independent external evaluation
configuration: Primary source as retrieved 2026-10-09
protocol id: cnv-20261009-protocol-delavega2025-hg002-exon-overlap
dataset version: GIAB HG002 SV v0.6 GRCh37 plus synthetic genes
split: Single HG002 sample
population: 60 DEL and 10 DUP exon-overlapping truth events
inputs: 50x PCR-free WGS, DRAGEN multi-genome BAM on GRCh37
adaptation: Not reported
metric implementation: Not reported
aggregation: Single sample, per stratum
budget: Not reported

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

Reproduction

Split: Single HG002 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 2026-10-09-8eac2440869c
Property and statement	Original source and location	Review 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 ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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 independent paper 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.adaptation Not reported Context-only references	De La Vega et al. 2025, Supplemental Table 3 Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip Retrieved: 2026-10-09T15:24:22Z	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `d900a69ec00915f1eb62dcf6b1ece0240cd4ba7937000652a6423fb813420bde` Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 52ad070b6703eb204924cb099e6bcbcdce0a4946235d3ef1c7c290469017584f; vbaf071_supplementary_data.zip 82318e5f18b797a277241a1b206a9aadd1e856cf4293eb79729185d314029691. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only. Inspected artifact
attributes.comparison.aggregation Single sample, per stratum Context-only references	Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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 independent paper 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.aggregation Single sample, per stratum Context-only references	De La Vega et al. 2025, Supplemental Table 3 Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip Retrieved: 2026-10-09T15:24:22Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `d900a69ec00915f1eb62dcf6b1ece0240cd4ba7937000652a6423fb813420bde` Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 52ad070b6703eb204924cb099e6bcbcdce0a4946235d3ef1c7c290469017584f; vbaf071_supplementary_data.zip 82318e5f18b797a277241a1b206a9aadd1e856cf4293eb79729185d314029691. 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	Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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 independent paper 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.budget Not reported Context-only references	De La Vega et al. 2025, Supplemental Table 3 Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip Retrieved: 2026-10-09T15:24:22Z	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `d900a69ec00915f1eb62dcf6b1ece0240cd4ba7937000652a6423fb813420bde` Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 52ad070b6703eb204924cb099e6bcbcdce0a4946235d3ef1c7c290469017584f; vbaf071_supplementary_data.zip 82318e5f18b797a277241a1b206a9aadd1e856cf4293eb79729185d314029691. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only. Inspected artifact
attributes.comparison.dataset_version GIAB HG002 SV v0.6 GRCh37 plus synthetic genes Context-only references	Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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 independent paper 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.dataset_version GIAB HG002 SV v0.6 GRCh37 plus synthetic genes Context-only references	De La Vega et al. 2025, Supplemental Table 3 Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip Retrieved: 2026-10-09T15:24:22Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `d900a69ec00915f1eb62dcf6b1ece0240cd4ba7937000652a6423fb813420bde` Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 52ad070b6703eb204924cb099e6bcbcdce0a4946235d3ef1c7c290469017584f; vbaf071_supplementary_data.zip 82318e5f18b797a277241a1b206a9aadd1e856cf4293eb79729185d314029691. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only. Inspected artifact
attributes.comparison.inputs 50x PCR-free WGS, DRAGEN multi-genome BAM on GRCh37 Context-only references	Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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 independent paper 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.inputs 50x PCR-free WGS, DRAGEN multi-genome BAM on GRCh37 Context-only references	De La Vega et al. 2025, Supplemental Table 3 Original source ↗ Supplemental Table 3, row 13 'Lumpy' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip Retrieved: 2026-10-09T15:24:22Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `d900a69ec00915f1eb62dcf6b1ece0240cd4ba7937000652a6423fb813420bde` Hash scope: artifact_sha256 is the inner supplementary file. Containers: europepmc_supplementary_zip 52ad070b6703eb204924cb099e6bcbcdce0a4946235d3ef1c7c290469017584f; vbaf071_supplementary_data.zip 82318e5f18b797a277241a1b206a9aadd1e856cf4293eb79729185d314029691. The Europe PMC zip is rebuilt per request, so its hash describes one retrieval only. Inspected artifact

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Sources and history

Release 2026-10-09-8eac2440869c · Record review: source checked

2 source records and release history

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications · Original source · Bioinformatics Advances 5(1):vbaf071, published 2025-04-10; PMC12005901 full-text XML
De La Vega et al. 2025, Supplemental Table 3 · Original source · Supplemental_Table_3.xlsx inside vbaf071_supplementary_data.zip

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Technical metadata and extraction receipts

Stable ID: cnv-20261009-eval-delavega2025-lumpy

areas: dna-genomes
contexts: clinical_research
origin: independent_paper
protocol: cnv-20261009-protocol-delavega2025-hg002-exon-overlap
version: Primary source as retrieved 2026-10-09
comparison: protocol id: cnv-20261009-protocol-delavega2025-hg002-exon-overlap; dataset version: GIAB HG002 SV v0.6 GRCh37 plus synthetic genes; split: Single HG002 sample; population: 60 DEL and 10 DUP exon-overlapping truth events; inputs: 50x PCR-free WGS, DRAGEN multi-genome BAM on GRCh37; adaptation: Not reported; metric implementation: Not reported; aggregation: Single sample, per stratum; budget: Not reported
source locator: Supplemental Table 3, row 13 'Lumpy'
missing metadata: denominator: reason: unreported; note: Per-stratum counts unreported; metric implementation: reason: unreported; note: Evaluation code not identified

Related records

system: LUMPY (De La Vega et al.)
assessment: HG002 exon-overlap CNV benchmark by event type and length (De La Vega et al. Table S3)
data: HG002 50x PCR-free WGS with GIAB SV v0.6 CNV truth and synthetic gene models
evaluation: delavega2025-lumpy precision (deletions, 1-5 kb)
evaluation: delavega2025-lumpy precision (duplications, 1-5 kb)
evaluation: delavega2025-lumpy precision (deletions, 5-10 kb)
evaluation: delavega2025-lumpy precision (duplications, 5-10 kb)
evaluation: delavega2025-lumpy precision (deletions, 10-50 kb)
evaluation: delavega2025-lumpy precision (duplications, 10-50 kb)
evaluation: delavega2025-lumpy precision (deletions, 50 kb and over)
evaluation: delavega2025-lumpy precision (duplications, 50 kb and over)
evaluation: delavega2025-lumpy precision (deletions, all sizes)
evaluation: delavega2025-lumpy precision (duplications, all sizes)
evaluation: delavega2025-lumpy precision (deletions and duplications combined)
evaluation: delavega2025-lumpy recall (deletions, 1-5 kb)
evaluation: delavega2025-lumpy recall (duplications, 1-5 kb)
evaluation: delavega2025-lumpy recall (deletions, 5-10 kb)
evaluation: delavega2025-lumpy recall (duplications, 5-10 kb)
evaluation: delavega2025-lumpy recall (deletions, 10-50 kb)
evaluation: delavega2025-lumpy recall (duplications, 10-50 kb)
evaluation: delavega2025-lumpy recall (deletions, 50 kb and over)
evaluation: delavega2025-lumpy recall (duplications, 50 kb and over)
evaluation: delavega2025-lumpy recall (deletions, all sizes)
evaluation: delavega2025-lumpy recall (duplications, all sizes)
evaluation: delavega2025-lumpy recall (deletions and duplications combined)

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