title: Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool.
abstract: BACKGROUND
  Advances 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.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  This tool can be used in systematic reviews to inform the selection of studies for inclusion, to conduct sensitivity analyses, and to perform meta-regressions.
authors.affiliation: Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.|Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
authors.forename: Zahra N
authors.initials: ZN
authors.lastname: Sohani
authors.affiliation: Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.|Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.|Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
authors.forename: David
authors.initials: D
authors.lastname: Meyre
authors.affiliation: Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.|Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
authors.forename: Russell J
authors.initials: RJ
authors.lastname: de Souza
authors.affiliation: Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. philip.joseph@phri.ca.
authors.forename: Philip G
authors.initials: PG
authors.lastname: Joseph
authors.affiliation: Department of Medicine, Western University, London, ON, Canada. mandark.gandhi@medportal.ca.
authors.forename: Mandark
authors.initials: M
authors.lastname: Gandhi
authors.affiliation: Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.|Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
authors.forename: Brittany B
authors.initials: BB
authors.lastname: Dennis
authors.affiliation: Programme for Educational Research and Development (PERD), McMaster University, Hamilton, ON, Canada. gnorman@mcmaster.ca.
authors.forename: Geoff
authors.initials: G
authors.lastname: Norman
authors.affiliation: Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.|Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.|Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. anands@mcmaster.ca.
authors.forename: Sonia S
authors.initials: SS
authors.lastname: Anand
mesh_terms: D056726:Genetic Association Studies / Q000592:standards*; D006801:Humans; D015201:Meta-Analysis as Topic; D010506:Periodicals as Topic; D015203:Reproducibility of Results; D012106:Research / Q000592:standards*; D012984:Software; D064878:Web Browser