GATK gCNV (Gabrielaite et al. WGS)
GATK_gCNV as run in the cited comparison.
Overview
GATK_gCNV as run in the cited comparison.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Evaluations and results
1 evaluation · 2 results. Different protocols are not a single leaderboard.
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Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: GATK gCNV (Gabrielaite et al. WGS) | Protocol: NA12878 WGS CNV recall and precision, 1 bp overlap (Gabrielaite et al. Table S2) Dataset: NA12878 WGS with the Haraksingh et al. 2017 gold-standard CNV set | 0.0186 precision fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcecnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap Aggregation: Not reported A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data; Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools) · Table S2.xlsx, sheet Supplementary_table2, K292; sample GB-WGS-NA12878; tool GATK_gCNV; column precision |
| Configuration: GATK gCNV (Gabrielaite et al. WGS) | Protocol: NA12878 WGS CNV recall and precision, 1 bp overlap (Gabrielaite et al. Table S2) Dataset: NA12878 WGS with the Haraksingh et al. 2017 gold-standard CNV set | 0.232 recall fraction · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourcecnv-20261009-protocol-gabrielaite2021-na12878-wgs-overlap Aggregation: Not reported A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data; Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools) · Table S2.xlsx, sheet Supplementary_table2, L292; sample GB-WGS-NA12878; tool GATK_gCNV; column recall |
Source checking is not independent reproduction. Release 2026-10-09-9307685239b3.
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Evidence
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Evidence table
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Sources and history
Release 2026-10-09-9307685239b3 · Record review: source checked
2 source records and release history
- A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data · Original source · Cancers 13(24):6283, published 2021-12-14; PMC8699073 full-text XML
- Gabrielaite et al. 2021, Table S2 (precision and recall of CNV calling tools) · Original source · Supplementary Materials/Table S2.xlsx inside cancers-13-06283-s001.zip
Technical metadata and extraction receipts
Stable ID: cnv-20261009-config-gabrielaite2021-gatk-gcnv
- areas
- dna-genomes
- contexts
- clinical_research
- method types
- conventional_pipeline
- reported name
- GATK_gCNV
- missing metadata
- version: reason: unreported; note: Unreported in the article methods
- foundation model eligible
- false
Related records
- configuration of: GATK gCNV
- system: GATK gCNV on NA12878 WGS