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Record W4410584272 · doi:10.1038/s41431-025-01861-6

Tools used to appraise the quality of studies included in systematic reviews and meta-analyses in human genetics: a systematic review

2025· review· en· W4410584272 on OpenAlexafffund
Carmen Lindsay, Ingeborg Blancquaert, François Rousseau

Bibliographic record

VenueEuropean Journal of Human Genetics · 2025
Typereview
Languageen
FieldDecision Sciences
TopicMeta-analysis and systematic reviews
Canadian institutionsUniversité LavalThe Quebec Population Health Research Network
FundersCentre Hospitalier Universitaire de QuébecMinistère de la SantéUniversité Laval
KeywordsSystematic reviewMEDLINEData extractionCritical appraisalMeta-analysisPublication biasWeb of scienceTransparency (behavior)MedicinePsychologyMedical physicsData scienceComputer sciencePathologyAlternative medicineBiology

Abstract

fetched live from OpenAlex

Quality assessment of primary studies is an essential component of systematic reviews (SRs). This methodological review systematically examines the choice, format and utilization of critical appraisal (CA) tools in SRs with or without meta-analyses in the field of human genetics. We searched MEDLINE, Embase, Web of Science, and PubMed up to January 2024. Two reviewers independently performed title, abstract, full-text screening and data extraction. This PROSPERO registered methodological review followed PRISMA guidelines. Meta-analysis and full-scale risk-of-bias assessment of SRs were not relevant. Among 149 randomly selected SRs, 136 mentioned CA tools (156 citations). Nineteen different generic tools constituted 71.2% of citations. NOS, QUADAS and the Cochrane risk-of-bias tool represented 36.5, 11.5, and 8.3% of tools, respectively. Ninety-three reviews stated following reporting guidelines, with 22 PRISMA checklists accessible. Detailed presentation of results was observed for 65.8% of generic and 37.8% of customized tools (p = 0.0013). Results for NOS were less often detailed than for other generic tools (p < 0.0001). Few SRs used CA results for study selection, data analysis, or discussion of findings. In conclusion, this first review of CA tools in human genetics SRs highlights a lack of transparency regarding utilization of CA tools and deficiencies in reporting of CA results.Registration: PROSPERO (CRD42023449349).

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.316
metaresearch head score (Gemma)0.656
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesMetaresearch
DomainCandidate signal: Evaluation · Consensus signal: none
Study designCandidate signal: Systematic review · Consensus signal: Systematic review
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.684
Threshold uncertainty score0.844

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.3160.656
Meta-epidemiology (narrow)0.0050.004
Meta-epidemiology (broad)0.0240.019
Bibliometrics0.0570.047
Science and technology studies0.0030.005
Scholarly communication0.0100.011
Open science0.0060.008
Research integrity0.0060.004
Insufficient payload (model declined to judge)0.0110.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.949
GPT teacher head0.661
Teacher spread0.288 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; the direct Gemma label and the distilled Codex classifier agree on what is shown here.

Study designSystematic review
DomainEvaluation
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes2
Has abstractyes

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