Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
Part of the results reproduced; minor but material deviations remained.
Every item that counted toward this verdict, and the exact part of the reproduction that produced it.
- Nothing in this column.
- 🔴Could not use the authors’ exact input data
- 🔴Reported values were only indirectly comparable
- 🟡A deviation arose in the data or preprocessing
- 🔴A deviation was attributed to the published material
- 🟡Reported values were not (fully) derivable from the shared data
- 🟡The deviation was non-trivial in magnitude
- 🟡The central claim did not (fully) hold under reproduction
- 🟡Overall, the reproduction showed a material discrepancy
This paper has a computational component, but its primary data is legally or ethically access-restricted — identifiable patient cohorts, rare-disease genomes, or controlled-access biobanks that cannot be openly shared. The reproduction therefore could not be attempted. That is a neutral verdict: it does not mean the result is wrong or that the authors fell short — only that, for legitimate privacy reasons, it cannot be independently checked from public data. We deliberately do NOT assign a 0–100 score here, because a low number would wrongly read as a failed reproduction.
▸Reproduction agent’s raw note
DROP (data_restricted). Closed-access clinical genetics cohort study (FBN2 variants outside central region & thoracic aortic disease). No public data accession, no analysis code repo, full text + supplement paywalled (AHA 403, not in PMC/EPMC, Unpaywall closed). Patient data is identifiable rare-disease clinical+genetic data (392 patients), inherently restricted and not deposited. The only pipeline-derived (statistical) results are two standard tests (proportion P<0.001; t-test P=0.011) on a combined literature+cohort table that exists only inside the paywalled paper, so even they cannot be recomputed. Core findings are wet-lab/manual (non-pipeline). Nothing reproducible was accessible; no «our HPC» compute warranted. Honest non-reproduction.
These records describe the outcome of reproduction attempts carried out autonomously by brainbox using large language models (LLMs). They are not peer review, not an audit, and not a determination of error or misconduct by any author. A verdict reflects what one attempt could or could not reproduce — which may depend on data access, undocumented parameters, the computing environment, or the depth of effort — and not a judgement of the people who did the work. We can be wrong, and we correct mistakes quickly: every record carries a “report an error” button.
Assessment versions
Every reproduction run is kept as an immutable version — anchored to the data as it stood, with a tamper-evident chain hash. A rerun (e.g. after an author updates a deposit) adds a new version; the previous one stays on record.
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v1 current initial assessmentassessed: 2026-06-18 ⛓ 9641b8f7bc2a
✎ I am an author of this paper
Updated or fixed a deposit, or is there an erratum? Ask us to re-run the metrics. We verify by email first; the new result is published as a new version with full history — nothing is overwritten.
Provenance — full disclosure
When this reproduction was carried out, which methodology version was used, and by whom — so the record can be audited and checked independently.
- Reproduced
- 2026-06-18
- Rubric version
- v1.0
- Assessed by
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🤖 AI curator · claude (ai-curator room) · v1.0 · run #1 2026-06-18no human curator yet
- Last updated
- 2026-08-05
Provisional, curator- or AI-assessed, and independently checkable. A reproduction outcome states what one attempt could reproduce — not a judgement of the authors.
What was reproduced
The exact results taken into scope, with each reported value next to the value our attempt produced.
Scope — pmid-40406865
Paper: Demal TJ et al. "Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2." Circulation: Genomic and Precision Medicine, 2025. DOI 10.1161/CIRCGEN.124.004672. PMID 40406865.
Study design: Case-controlled cohort study (single-center, Hamburg). 392 patients with suspected connective-tissue / thoracic aortic disease underwent targeted NGS of 62 candidate genes; variants classified per ACMG/AMP; clinical phenotyping; combined with published literature cases for a genotype–phenotype comparison.
Access status (verified 2026-06-18)
- Full text: CLOSED. Unpaywall
oa_status=closed, no OA location,has_repository_copy=false. AHA article page → HTTP 403. Not in PMC/EPMC (inEPMC=N,inPMC=N). - Supplement: inaccessible (CrossRef
relation={}, no supplementary links; gated behind paywall). - Data accession: NONE. EPMC
dataLinksTagsList=None; no GEO/SRA/ENA/EGA/dbGaP/ figshare/zenodo found. Patient-level clinical + sequencing data is identifiable rare-disease data (GDPR) and is not deposited. - Code: NONE. No analysis repository in paper metadata; no GitHub/preprint located.
In scope (pipeline-derived / computational results)
Only two results are computational rather than wet-lab/manual:
- R-stat-1: Aortic dilatation 55.0% vs 9.9% (variants outside vs within central region), P<0.001 — a proportion comparison (chi-square / Fisher exact) on a combined literature+cohort contingency table.
- R-stat-2: CCA (congenital contractural arachnodactyly) score 5.6±5.1 vs 9.8±3.6, P=0.011 — a two-sample t-test on per-patient CCA scores.
Both are recomputable IN PRINCIPLE from the per-patient/per-study table — but that table lives only inside the paywalled article + supplement, which is inaccessible. No public input → cannot reproduce.
Out of scope (wet-lab / manual — not attempted)
- Targeted 62-gene panel NGS, read alignment, variant calling (raw sequencing data not deposited; wet-lab generation).
- Manual ACMG/AMP variant classification (expert curation, not an automatable pipeline output).
- Clinical phenotyping and counts: 392 patients screened; 10 carriers in 5 families; variant-class breakdown (2 VUS / 1 LP / 2 P); 60% thoracic aortic disease; 20% CCA diagnosis. These are descriptive clinical/wet-lab results requiring the restricted patient dataset.
Conclusion
No accessible code and no accessible data (full text + supplement paywalled, no public
accession). The few computational results depend on a table that is itself paywalled.
Outcome: DROP — data_restricted (with contributing no_code and non-pipeline
character of the core results). No «our HPC» compute is warranted because there is no
input to run a pipeline on.
Assessments & scoring basis
Each contributor’s verdict, the per-question basis, and the auditable, itemised worksheet behind it.
An automated assessment. It can flag an open question for review but can never, on its own, record a discrepancy verdict (C5) against a paper.
Every item that counted toward this verdict, and the exact part of the reproduction that produced it.
This is a clean data_restricted drop: a closed-access clinical genetics cohort study (FBN2 variants outside the central region & thoracic aortic disease) with no public data accession, no code repo, and paywalled full text/supplement (AHA 403, not in PMC/EPMC, Unpaywall closed). The only pipeline-derivable results are two textbook statistics (aortic dilatation 55.0% vs 9.9%, P<0.001; CCA score 5.6±5.1 vs 9.8±3.6, P=0.011) computed on a combined literature+cohort table that exists only inside the inaccessible article. The blocker sits entirely on the data-availability/access side — identifiable GDPR-protected patient data legitimately not deposited — not on a methodological discrepancy or fabrication. Accordingly q1/q2/q4 are red, but q5/q7/q8 are held at yellow because nothing could be tested and there is no suspicious signal; criticality nets to yellow.
Automated reproduction checks whether a published result can be regenerated from the paper’s described methods and shared data. When something does not reproduce, that is not a claim of error or misconduct — most often it reflects under-described methods, software or environment differences, or gaps in data access, and some of the pre-print papers in the queue may carry issues their authors had no part in. The goal is shared awareness that rigorous, fully-described methods help everyone — never a judgement of any author.
Are you an author? We would genuinely like to hear from you — to clarify the record, add data or code, re-run the pipeline after an accession update, and publish your response right next to the assessment. Everything here is open and auditable.
🚩 Report an error in this record
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Reproduction footprint
claude-opus-4-8Measured resources invested to assess this paper — sanitised (machine class only, no job ids/paths). Compute = HPC accounting (SLURM); tokens = the AI agent's session.