Protocol

HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1)

Evidence concern: excluded from comparisons

Results 3.1 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999

Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement

Deletion-only benchmark of ten short-read SV callers.

10 evaluations · 240 results

Overview

Deletion-only benchmark of ten short-read SV callers.

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

10 recorded evaluations, 240 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

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

All evaluations

10 evaluations · 240 results. Different protocols are not a single leaderboard.

Filter evaluations

Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I62; Method CNVnator; Interval 100-499; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.112 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I64; Method CNVnator; Interval 1000-4999; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.832 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I66; Method CNVnator; Interval 10000-19999; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I61; Method CNVnator; Interval 50-99; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I63; Method CNVnator; Interval 500-999; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.533 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I65; Method CNVnator; Interval 5000-9999; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.0415 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I68; Method CNVnator; Interval ALL; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.398 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I67; Method CNVnator; Interval >20000; column F1Score
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G62; Method CNVnator; Interval 100-499; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.952 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G64; Method CNVnator; Interval 1000-4999; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.783 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G66; Method CNVnator; Interval 10000-19999; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G61; Method CNVnator; Interval 50-99; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	NA 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G63; Method CNVnator; Interval 500-999; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.868 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G65; Method CNVnator; Interval 5000-9999; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.688 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G68; Method CNVnator; Interval ALL; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.268 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, G67; Method CNVnator; Interval >20000; column Precision
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H62; Method CNVnator; Interval 100-499; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.0593 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H64; Method CNVnator; Interval 1000-4999; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.889 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H66; Method CNVnator; Interval 10000-19999; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H61; Method CNVnator; Interval 50-99; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H63; Method CNVnator; Interval 500-999; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.385 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H65; Method CNVnator; Interval 5000-9999; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.0214 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H68; Method CNVnator; Interval ALL; column Recall
Configuration: CNVnator v0.4.1 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.769 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source CNVnator on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, H67; Method CNVnator; Interval >20000; column Recall
Configuration: DELLY v1.1.5 (Nardone et al.)	Protocol: HG002 short-read deletion calling by length bin, witty.er (Nardone et al. Table S1) Dataset: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)	0.726 f1-score 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 prose gives inGAP in the 5000-9999 bp bin as F1 97%, precision 92%, recall 94%. Table S1 rows for inGAP 5000-9999 print F1 0.9466, precision 0.9714, recall 0.9231. The prose values are not consistent with each other (F1 cannot exceed both precision and recall) or with the table. Table values are recorded; prose values are not.A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Results 3.1 paragraph 2 versus TableS1.xlsx Method inGAP, Interval 5000-9999 Short-read input depth and alignment for Table S1 are stated inconsistently: Methods 2.2 says the 65x reads were subsampled to 25x and aligned with bwa-mem2 for preliminary evaluations; Results 3.1 says the HG002 data were previously aligned using the DRAGEN pipeline; the Data Availability Statement cites 30x Illumina HG002 2x250 reads. Which depth and aligner produced Table S1 is not resolved, so these results should not be compared automatically with other HG002 tables.Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Methods 2.2 paragraph 1; Results 3.1 paragraph 1; Data Availability Statement Methods, coverage and source DELLY on HG002 deletions (Nardone et al.) cnv-20261009-protocol-nardone2025-hg002-del-wittyer Aggregation: Not reported A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies; Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · TableS1.xlsx, I22; Method DELLY; Interval 100-499; column F1Score

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A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies · Original source · Biomedicines 13(8):1949, published 2025-08-09; PMC12383524 full-text XML
Nardone et al. 2025, Table S1 (ten short-read SV callers on HG002) · Original source · TableS1.xlsx inside biomedicines-13-01949-s001.zip

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Technical metadata and extraction receipts

Stable ID: cnv-20261009-protocol-nardone2025-hg002-del-wittyer

areas: dna-genomes
contexts: clinical_research
protocol: Deletion calls compared with HG002 Tier 1 deletions using Witty.er v0.5.2 (Methods 2.4); TP, FP, FN, precision, recall and F1 per length bin and overall.
version: Table S1
limitations: Deletions only; no duplications.; Bins from 50 bp include events below usual CNV size; the CNV-relevant bins are 1,000 bp and above.; Input depth and aligner conflict between Methods, Results and Data Availability.
missing metadata: metric implementation: reason: unreported; note: witty.er v0.5.2 is named (Methods 2.4); its matching parameters are unreported

Related records

uses data: HG002 GIAB SV v0.6 Tier 1 deletions lifted to GRCh38 (5,414)
assessment: CNVnator on HG002 deletions (Nardone et al.)
assessment: DELLY on HG002 deletions (Nardone et al.)
assessment: DRAGENv4.0 on HG002 deletions (Nardone et al.)
assessment: DRAGENv4.2 on HG002 deletions (Nardone et al.)
assessment: inGAP on HG002 deletions (Nardone et al.)
assessment: Lumpy on HG002 deletions (Nardone et al.)
assessment: Manta on HG002 deletions (Nardone et al.)
assessment: MATCHCLIP on HG002 deletions (Nardone et al.)
assessment: SoftSV on HG002 deletions (Nardone et al.)
assessment: Wham on HG002 deletions (Nardone et al.)
assessed by: Select a copy-number variant detection and characterisation workflow

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