Dataset

Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)

Clinical WES of 180 unrelated patients; 44 also had chromosomal microarray, of whom 39 contributed 98 high-quality reference CNVs spanning 2,788 exons.

Evaluation results

8 evaluations · 48 results. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2280 False negatives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'cn.MOPS' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2630 False positives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FP', column 'cn.MOPS' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.144 Precision (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'PPV', column 'cn.MOPS' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2720 Count (exon level; reference CMA CNV exons in the evaluated set) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Reference Truth set', column 'cn.MOPS' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.162 Recall (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Sensitivity', column 'cn.MOPS' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	441 True positives (exon level) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source cn.MOPS (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'TP', column 'cn.MOPS' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	866 False negatives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'CNVkit' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	6580 False positives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FP', column 'CNVkit' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.219 Precision (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'PPV', column 'CNVkit' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2710 Count (exon level; reference CMA CNV exons in the evaluated set) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Reference Truth set', column 'CNVkit' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.68 Recall (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Sensitivity', column 'CNVkit' / 'Post-filter'
Configuration: CNVkit v0.9.7, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	1840 True positives (exon level) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CNVkit (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'TP', column 'CNVkit' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	620 False negatives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'CoNIFER' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	6290 False positives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FP', column 'CoNIFER' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.25 Precision (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'PPV', column 'CoNIFER' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2710 Count (exon level; reference CMA CNV exons in the evaluated set) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Reference Truth set', column 'CoNIFER' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.771 Recall (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Sensitivity', column 'CoNIFER' / 'Post-filter'
Configuration: CoNIFER v0.2.2, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2090 True positives (exon level) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source CoNIFER (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'TP', column 'CoNIFER' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	207 False negatives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'ExomeDepth' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	16,797 False positives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FP', column 'ExomeDepth' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.102 Precision (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'PPV', column 'ExomeDepth' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2120 Count (exon level; reference CMA CNV exons in the evaluated set) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Reference Truth set', column 'ExomeDepth' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	0.903 Recall (exon level) fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'Sensitivity', column 'ExomeDepth' / 'Post-filter'
Configuration: ExomeDepth v1.1.15, post-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, after removing tool-specific problematic regions (Hwang et al. Table 4, post-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	1920 True positives (exon level) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ExomeDepth (post-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-post-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'TP', column 'ExomeDepth' / 'Post-filter'
Configuration: cn.MOPS v1.14.1, pre-filter (Hwang et al. 2026)	Protocol: Exon-level CNV detection in clinical exomes against CMA truth, default calls (Hwang et al. Table 4, pre-filter) Dataset: Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026)	2310 False negatives (exon level) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source cn.MOPS (pre-filter) on 39 clinical exomes against CMA truth cnv-20261011-hwang2026-protocol-pre-filter Aggregation: Not reported Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Table 4, row 'FN', column 'cn.MOPS' / 'Pre-filter'

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7 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statement	Original source and location	Review and provenance
Assay Agilent SureSelect Human All Exon v6, Illumina NovaSeq 6000 2 x 150 bp, mean on-target depth 110x; BWA-MEM v0.7.17 to GRCh37; CMA on CytoScan Dx and 750K arrays analysed with ChAS Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.assay` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Population 39 CMA-positive individuals; 98 reference CNVs (39 deletions, 59 duplications; 5.03 kb to 6.91 Mb) covering 2,058 deleted and 730 duplicated exons; the other 141 exomes were used only to define problematic regions Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.population` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Source location Methods 2.1 and 2.2; Table 1; Results 3.1 Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Split No split Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.split` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Version As published (raw data not shared in the article) Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.version` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Description Clinical WES of 180 unrelated patients; 44 also had chromosomal microarray, of whom 39 contributed 98 high-quality reference CNVs spanning 2,788 exons. Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `description` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Name Korea University clinical exomes with CMA reference CNVs (Hwang et al. 2026) Context-only references	Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) Original source ↗ Methods 2.1 and 2.2; Table 1; Results 3.1 Version: Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML Retrieved: 2026-10-11T21:36:59Z	not individually reviewed No individual claim review recorded Audit details Field: `name` Source artifact SHA-256: `ff82a186d0adcf319b603a1100427ec0f6ed95becf040b512d0aef5e515bdc5d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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Improving CNV Detection Performance Except for Software-Specific Problematic Regions (Hwang et al., Genes 2026) · Original source · Genes 17(1):105, published 2026-01-19; PMC12841491 full-text XML

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Technical metadata and extraction receipts

Stable ID: cnv-20261011-hwang2026-data-korea-wes-cma-39

areas: dna-genomes
contexts: clinical_research
version: As published (raw data not shared in the article)
assay: Agilent SureSelect Human All Exon v6, Illumina NovaSeq 6000 2 x 150 bp, mean on-target depth 110x; BWA-MEM v0.7.17 to GRCh37; CMA on CytoScan Dx and 750K arrays analysed with ChAS
population: 39 CMA-positive individuals; 98 reference CNVs (39 deletions, 59 duplications; 5.03 kb to 6.91 Mb) covering 2,058 deleted and 730 duplicated exons; the other 141 exomes were used only to define problematic regions
split: No split
source locator: Methods 2.1 and 2.2; Table 1; Results 3.1

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