Configuration: Parliament2 (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 0.505 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 Parliament 2 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, C12; row 'Parliament 2'; group 'deletions, 1-5 kb'; column Precision Configuration: Parliament2 (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 Parliament 2 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, E12; row 'Parliament 2'; group 'duplications, 1-5 kb'; column Precision Configuration: Parliament2 (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 0.862 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 Parliament 2 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, G12; row 'Parliament 2'; group 'deletions, 5-10 kb'; column Precision Configuration: Parliament2 (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 Parliament 2 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, I12; row 'Parliament 2'; group 'duplications, 5-10 kb'; column Precision Configuration: Parliament2 (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 0.615 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 Parliament 2 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, K12; row 'Parliament 2'; group 'deletions, 10-50 kb'; column Precision Configuration: Parliament2 (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 Parliament 2 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, M12; row 'Parliament 2'; group 'duplications, 10-50 kb'; column Precision Configuration: Parliament2 (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 0.0612 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 Parliament 2 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, O12; row 'Parliament 2'; group 'deletions, 50 kb and over'; column Precision Configuration: Parliament2 (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 Parliament 2 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, Q12; row 'Parliament 2'; group 'duplications, 50 kb and over'; column Precision Configuration: Parliament2 (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 0.405 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 Parliament 2 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, S12; row 'Parliament 2'; group 'deletions, all sizes'; column Precision Configuration: Parliament2 (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 Parliament 2 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, U12; row 'Parliament 2'; group 'duplications, all sizes'; column Precision Configuration: Parliament2 (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 0.405 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 Parliament 2 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, W12; row 'Parliament 2'; group 'deletions and duplications combined'; column Precision Configuration: Parliament2 (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 0.958 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 Parliament 2 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, B12; row 'Parliament 2'; group 'deletions, 1-5 kb'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, D12; row 'Parliament 2'; group 'duplications, 1-5 kb'; column Sensitivity Configuration: Parliament2 (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 0.862 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 Parliament 2 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, F12; row 'Parliament 2'; group 'deletions, 5-10 kb'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, H12; row 'Parliament 2'; group 'duplications, 5-10 kb'; column Sensitivity Configuration: Parliament2 (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 0.889 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 Parliament 2 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, J12; row 'Parliament 2'; group 'deletions, 10-50 kb'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, L12; row 'Parliament 2'; group 'duplications, 10-50 kb'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, N12; row 'Parliament 2'; group 'deletions, 50 kb and over'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, P12; row 'Parliament 2'; group 'duplications, 50 kb and over'; column Sensitivity Configuration: Parliament2 (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 0.812 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 Parliament 2 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, R12; row 'Parliament 2'; group 'deletions, all sizes'; column Sensitivity Configuration: Parliament2 (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 Parliament 2 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, T12; row 'Parliament 2'; group 'duplications, all sizes'; column Sensitivity Configuration: Parliament2 (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 0.702 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 Parliament 2 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, V12; row 'Parliament 2'; group 'deletions and duplications combined'; column Sensitivity