Evidence map›Paper›PMID 25975208›Full record

ArticleBMC genetics2015

Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool.

Zahra N Sohani, David Meyre, Russell J de Souza, Philip G Joseph, Mandark Gandhi, Brittany B Dennis, Geoff Norman, Sonia S Anand

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 70 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
101citing papers in PubMed, 70 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

101 citing papers in PubMed, 70 syntheses or guidelines pooled it.

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  7. Skin barrier-related genes in childhood atopic dermatitis, asthma, and allergy: A systematic review and meta-analysis.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
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  12. Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025
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41 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Zahra N SohaniPopulation Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
David MeyrePopulation Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
Russell J de SouzaPopulation Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
Philip G JosephDepartment of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. philip.joseph@phri.ca.
Mandark GandhiDepartment of Medicine, Western University, London, ON, Canada. mandark.gandhi@medportal.ca.
Brittany B DennisPopulation Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
Geoff NormanProgramme for Educational Research and Development (PERD), McMaster University, Hamilton, ON, Canada. gnorman@mcmaster.ca.
Sonia S AnandPopulation Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAdvances in genomics technology have led to a dramatic increase in the number of published genetic association studies. Systematic reviews and meta-analyses are a common method of synthesizing findings and providing reliable estimates of the effect of a genetic variant on a trait of interest. However, summary estimates are subject to bias due to the varying methodological quality of individual studies. We embarked on an effort to develop and evaluate a tool that assesses the quality of published genetic association studies. Performance characteristics (i.e. validity, reliability, and item discrimination) were evaluated using a sample of thirty studies randomly selected from a previously conducted systematic review.

resultsThe tool demonstrates excellent psychometric properties and generates a quality score for each study with corresponding ratings of 'low', 'moderate', or 'high' quality. We applied our tool to a published systematic review to exclude studies of low quality, and found a decrease in heterogeneity and an increase in precision of summary estimates.

conclusionThis tool can be used in systematic reviews to inform the selection of studies for inclusion, to conduct sensitivity analyses, and to perform meta-regressions.

Indexed as

Meta-Analysis as TopicPeriodicals as TopicSoftwareGenetic Association StudiesHumansReproducibility of ResultsResearchWeb Browser

Identifiers

PMID25975208
PMCPMC4431044

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.