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A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis

Open access
Marees, Andries T., de Kluiver, Hilde, Stringer, Sven, Vorspan, Florence, Curis, Emmanuel, Marie‐Claire, Cynthia, Derks, Eske M.·2018·International Journal of Methods in Psychiatric Research

Abstract

Objectives: Genome‐wide association studies (GWAS) have become increasingly popular to identify associations between single nucleotide polymorphisms (SNPs) and phenotypic traits. The GWAS method is commonly applied within the social sciences. However, statistical analyses will need to be carefully conducted and the use of dedicated genetics software will be required. This tutorial aims to provide a guideline for conducting genetic analyses. Methods: We discuss and explain key concepts and illustrate how to conduct GWAS using example scripts provided through GitHub (https://github.com/MareesAT/GWA_tutorial/). In addition to the illustration of standard GWAS, we will also show how to apply polygenic risk score (PRS) analysis. PRS does not aim to identify individual SNPs but aggregates information from SNPs across the genome in order to provide individual‐level scores of genetic risk. Results: The simulated data and scripts that will be illustrated in the current tutorial provide hands‐on practice with genetic analyses. The scripts are based on PLINK, PRSice, and R, which are commonly used, freely available software tools that are accessible for novice users. Conclusions: By providing theoretical background and hands‐on experience, we aim to make GWAS more accessible to researchers without formal training in the field.

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Metadata

Authors
Marees, A. T., de Kluiver, H., Stringer, S., Vorspan, F., Curis, E., Marie‐Claire, C., & Derks, E. M.
Venue
International Journal of Methods in Psychiatric Research
Publisher
Wiley
Published
2018-02-27
Volume
27
Issue
2
Pages
e1608-e1608
ISSN
  • 1049-8931 (ISSN-L)
  • 1557-0657
OpenAlex
W2794134966
Cited by
828
References
21
FWCI
31.23
Type
journal article
Language
en
Open access
hybrid
Funders
Agence Nationale de la Recherche (ANR‐11‐IDEX‐0004‐02)

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CoChat. (2026). Citation check: A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis. https://app.cochat.ai/papers/10.1002/mpr.1608
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Marees, A. T., de Kluiver, H., Stringer, S., Vorspan, F., Curis, E., Marie‐Claire, C., & Derks, E. M. (2018). A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis. International Journal of Methods in Psychiatric Research. https://doi.org/10.1002/mpr.1608

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