| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.976 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', L8; row [10,000-20,0000); column CNVnator F-score |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.98 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', K8; row [10,000-20,0000); column CNVnator Precision |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.972 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', J8; row [10,000-20,0000); column CNVnator Recall |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.949 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', L9; row [20,000-50,000); column CNVnator F-score |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.984 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', K9; row [20,000-50,000); column CNVnator Precision |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.916 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', J9; row [20,000-50,000); column CNVnator Recall |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.618 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', L7; row [5,000-10,000); column CNVnator F-score |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.796 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', K7; row [5,000-10,000); column CNVnator Precision |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.505 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', J7; row [5,000-10,000); column CNVnator Recall |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.99 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', L10; row >50,000; column CNVnator F-score |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.998 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', K10; row >50,000; column CNVnator Precision |
|---|
| Configuration: CNVnator comparator (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.982 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCNVnator deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', J10; row >50,000; column CNVnator Recall |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.941 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', D8; row [10,000-20,0000); column DRAGEN4.2 (CNV) F-score |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 1 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', C8; row [10,000-20,0000); column DRAGEN4.2 (CNV) Precision |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.888 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', B8; row [10,000-20,0000); column DRAGEN4.2 (CNV) Recall |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.903 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', D9; row [20,000-50,000); column DRAGEN4.2 (CNV) F-score |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.967 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', C9; row [20,000-50,000); column DRAGEN4.2 (CNV) Precision |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [20,000-50,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.85 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [20,000-50,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-20-50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', B9; row [20,000-50,000); column DRAGEN4.2 (CNV) Recall |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | NaN f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', D7; row [5,000-10,000); column DRAGEN4.2 (CNV) F-score |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', C7; row [5,000-10,000); column DRAGEN4.2 (CNV) Precision |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion [5,000-10,000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.01 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion [5,000-10,000) cnv-20261009-protocol-behera2024-hg002-cnv-del-5-10kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', B7; row [5,000-10,000); column DRAGEN4.2 (CNV) Recall |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.996 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', D10; row >50,000; column DRAGEN4.2 (CNV) F-score |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.996 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', C10; row >50,000; column DRAGEN4.2 (CNV) Precision |
|---|
| Configuration: DRAGEN 4.2 CNV-only configuration (Behera et al. Table S4) | Protocol: HG002 GIAB v0.6 CNV deletion >50,000 bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.996 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV) deletion >50,000 cnv-20261009-protocol-behera2024-hg002-cnv-del-gt50kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', B10; row >50,000; column DRAGEN4.2 (CNV) Recall |
|---|
| Configuration: DRAGEN 4.2 CNV+SV configuration | Protocol: HG002 GIAB v0.6 CNV deletion [10,000-20,0000) bp (DRAGEN Table S4) Dataset: HG002 35x WGS, GIAB SV v0.6 deletions >1 kb, Table S4 length bins | 0.941 f1-score fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceDRAGEN4.2 (CNV+SV) deletion [10,000-20,0000) cnv-20261009-protocol-behera2024-hg002-cnv-del-10-20kb Aggregation: Not reported Comprehensive genome analysis and variant detection at scale using DRAGEN; DRAGEN supplementary tables 1–17 · Supplementary Tables XLSX sheet 'S4 CNV benchmarking', H8; row [10,000-20,0000); column DRAGEN4.2 (CNV+SV) F-score |
|---|