Result

Recall (per-class recall for reference class pathogenic (pathogenic and likely pathogenic merged), three-category scheme; printed as 'Accuracy') of MarCNV-ISV (Zhang et al. 2026) on Expert-classified ACMG CNV benchmark (Zhang et al. 2026, 3,031 CNVs)

58.1% Recall (per-class recall for reference class pathogenic (pathogenic and likely pathogenic merged), three-category scheme; printed as 'Accuracy')

Methods

Tested configuration: MarCNV-ISV (Zhang et al. 2026)
Protocol: Three-category CNV classification, per-class agreement on duplications (Zhang et al. Table 4, DUP)
Dataset: Expert-classified ACMG CNV benchmark (Zhang et al. 2026, 3,031 CNVs)
Procedure: Three-category CNV classification, per-class agreement on duplications (Zhang et al. Table 4, DUP)
Evaluation: MarCNV-ISV on the expert-classified ACMG CNV benchmark (three category duplications)
Coverage: Not reported scored / Not reported eligible
Uncertainty: Not reported by the source
Evidence: Independent external evaluation · source checkedCan automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation (Zhang, Zhang and Chen, Global Medical Genetics 2026) · Table 4, block 'DUP', row 'P', column 'MarCNV-ISV (%)'

A source-checked result verifies the numerical transcription, not every model or protocol detail. Evaluation metadata: source checked. Source checked does not mean independently reproduced.

Reproduction

Split: No split
Adaptation: Not reported
Scoring implementation: Share of reference-class CNVs assigned to the same merged class

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

Evidence

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Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

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1 evidence row 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
Reported result 58.12 Individual claims	Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation (Zhang, Zhang and Chen, Global Medical Genetics 2026) Original source ↗ Table 4, block 'DUP', row 'P', column 'MarCNV-ISV (%)' Version: Global Medical Genetics 13:100096 (2026), published online 2026-03-06; PMC13018948 full-text XML Retrieved: 2026-10-11T21:36:59Z	source checked ["source-hash-verification","independent-cell-check","automated-source-review"] · 2026-10-12 independent paper Audit details Checked by reviewer-scnv against the pinned source; verdict in docs/reviews/use-cases/splicing-cnv-use-cases-2026-10-12.md and in this batch's review.md. Field: `attributes.printed_value` Source artifact SHA-256: `a0810a8bff1ab3d2603a4832a56291cc182c8530aa8dffc6ac5318abd989ada0` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact Extraction artifact SHA-256: `a0810a8bff1ab3d2603a4832a56291cc182c8530aa8dffc6ac5318abd989ada0` Extraction artifact

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Sources and history

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

1 source record and release history

Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation (Zhang, Zhang and Chen, Global Medical Genetics 2026) · Original source · Global Medical Genetics 13:100096 (2026), published online 2026-03-06; PMC13018948 full-text XML

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Technical metadata and extraction receipts

Stable ID: cnv-20261011-zhang2026-result-three-category-duplications-marcnv-isv-p

metric: recall
metric direction: higher
unit: percent
printed value: 58.12
source locator: Table 4, block 'DUP', row 'P', column 'MarCNV-ISV (%)'
review: method: source-hash-verification; independent-cell-check; automated-source-review; reviewer: claude; reviewer note: Independent Claude review agent reviewer-scnv; did not extract this batch; no human review claimed; date: 2026-10-12; artifact sha256: a0810a8bff1ab3d2603a4832a56291cc182c8530aa8dffc6ac5318abd989ada0; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13018948/fullTextXML; method note: Parsed the pinned PMC13018948 article XML (table-wrap elements) with a stdlib reader; caption, header and row labels asserted; printed cell text kept exactly.; note: Checked by reviewer-scnv against the pinned source; verdict in docs/reviews/use-cases/splicing-cnv-use-cases-2026-10-12.md and in this batch's review.md.
numeric value: 58.12
metric qualifier: per-class recall for reference class pathogenic (pathogenic and likely pathogenic merged), three-category scheme; printed as 'Accuracy'
missing metadata: uncertainty: reason: unreported

Related records

evaluation: MarCNV-ISV on the expert-classified ACMG CNV benchmark (three category duplications)

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