Evidence map›Paper›PMID 29484742›Full record

ArticleInternational journal of methods in psychiatric research2018

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

Andries T Marees, Hilde de Kluiver, Sven Stringer, Florence Vorspan, Emmanuel Curis, Cynthia Marie-Claire, Eske M Derks

Abstract read
In one paragraph

Article in International journal of methods in psychiatric research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 448 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
448citing papers in PubMed, 2 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

448 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Pooled it
  3. Platelet count polygenic scores may modify the effect of aspirin in primary prevention of dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Trial
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  13. Animals : an open access journal from MDPI · 2026
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388 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

7 authors.

Andries T MareesDepartment of Psychiatry, Amsterdam Medical Center, Amsterdam, The Netherlands.ORCID 0000-0002-9781-7492
Hilde de KluiverGGZ inGeest and Department of Psychiatry, Amsterdam Public Health research institute, VU University Medical Center, Amsterdam, The Netherlands.
Sven StringerDepartment of Complex Trait Genetics, VU University, Amsterdam, The Netherlands.
Florence VorspanDepartment of Psychiatry, Amsterdam Medical Center, Amsterdam, The Netherlands.
Emmanuel CurisUniversité Paris Descartes, UMR-S 1144, Paris, France.
Cynthia Marie-ClaireInserm, UMR-S 1144, Paris, France.
Eske M DerksDepartment of Psychiatry, Amsterdam Medical Center, Amsterdam, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesGenome-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.

methodsWe 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.

resultsThe 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.

conclusionsBy providing theoretical background and hands-on experience, we aim to make GWAS more accessible to researchers without formal training in the field.

Indexed as

Data Interpretation, StatisticalGuidelines as TopicMultifactorial InheritanceQuality ControlGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRisk Assessmentgenome-wide association study (GWAS)GitHubPLINKpolygenic risk score (PRS)tutorial

Identifiers

PMID29484742
PMCPMC6001694

What OpenQuestion holds

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LicenceCC BY-NC
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.