Configuration: Cue, cue.v2.pt model (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 precisionfraction · 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 Cue (cue.v2.pt model) 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, C10; row 'Cue (cue.v2.pt model)'; group 'deletions, 1-5 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 precisionfraction · 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 Cue (cue.v2.pt model) 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, E10; row 'Cue (cue.v2.pt model)'; group 'duplications, 1-5 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 1 precisionfraction · 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 Cue (cue.v2.pt model) 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, G10; row 'Cue (cue.v2.pt model)'; group 'deletions, 5-10 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 precisionfraction · 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 Cue (cue.v2.pt model) 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, I10; row 'Cue (cue.v2.pt model)'; group 'duplications, 5-10 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 0.854 precisionfraction · 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 Cue (cue.v2.pt model) 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, K10; row 'Cue (cue.v2.pt model)'; group 'deletions, 10-50 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 1 precisionfraction · 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 Cue (cue.v2.pt model) 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, M10; row 'Cue (cue.v2.pt model)'; group 'duplications, 10-50 kb'; column Precision Configuration: Cue, cue.v2.pt model (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 0.333 precisionfraction · 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 Cue (cue.v2.pt model) 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, O10; row 'Cue (cue.v2.pt model)'; group 'deletions, 50 kb and over'; column Precision Configuration: Cue, cue.v2.pt model (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 precisionfraction · 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 Cue (cue.v2.pt model) 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, Q10; row 'Cue (cue.v2.pt model)'; group 'duplications, 50 kb and over'; column Precision Configuration: Cue, cue.v2.pt model (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 0.798 precisionfraction · 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 Cue (cue.v2.pt model) 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, S10; row 'Cue (cue.v2.pt model)'; group 'deletions, all sizes'; column Precision Configuration: Cue, cue.v2.pt model (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 0.5 precisionfraction · 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 Cue (cue.v2.pt model) 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, U10; row 'Cue (cue.v2.pt model)'; group 'duplications, all sizes'; column Precision Configuration: Cue, cue.v2.pt model (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 0.76 precisionfraction · 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 Cue (cue.v2.pt model) 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, W10; row 'Cue (cue.v2.pt model)'; group 'deletions and duplications combined'; column Precision Configuration: Cue, cue.v2.pt model (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 recallfraction · 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 Cue (cue.v2.pt model) 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, B10; row 'Cue (cue.v2.pt model)'; group 'deletions, 1-5 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 recallfraction · 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 Cue (cue.v2.pt model) 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, D10; row 'Cue (cue.v2.pt model)'; group 'duplications, 1-5 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 0.786 recallfraction · 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 Cue (cue.v2.pt model) 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, F10; row 'Cue (cue.v2.pt model)'; group 'deletions, 5-10 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 recallfraction · 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 Cue (cue.v2.pt model) 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, H10; row 'Cue (cue.v2.pt model)'; group 'duplications, 5-10 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 1 recallfraction · 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 Cue (cue.v2.pt model) 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, J10; row 'Cue (cue.v2.pt model)'; group 'deletions, 10-50 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 1 recallfraction · 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 Cue (cue.v2.pt model) 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, L10; row 'Cue (cue.v2.pt model)'; group 'duplications, 10-50 kb'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 1 recallfraction · 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 Cue (cue.v2.pt model) 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, N10; row 'Cue (cue.v2.pt model)'; group 'deletions, 50 kb and over'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 recallfraction · 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 Cue (cue.v2.pt model) 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, P10; row 'Cue (cue.v2.pt model)'; group 'duplications, 50 kb and over'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 0.347 recallfraction · 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 Cue (cue.v2.pt model) 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, R10; row 'Cue (cue.v2.pt model)'; group 'deletions, all sizes'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 0.2 recallfraction · 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 Cue (cue.v2.pt model) 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, T10; row 'Cue (cue.v2.pt model)'; group 'duplications, all sizes'; column Sensitivity Configuration: Cue, cue.v2.pt model (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 0.327 recallfraction · 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 Cue (cue.v2.pt model) 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, V10; row 'Cue (cue.v2.pt model)'; group 'deletions and duplications combined'; column Sensitivity