Performing post-genome-wide association study analysis: overview, challenges and recommendations.

Genome-Wide Association Study / methods Phenotype Polymorphism, Single Nucleotide
GWAS Meta-analysis PostGWAS pGWAS

Journal

F1000Research
ISSN: 2046-1402
Titre abrégé: F1000Res
Pays: England
ID NLM: 101594320

Informations de publication

Date de publication:
2021
Historique:
accepted: 22 09 2021
entrez: 28 2 2022
pubmed: 1 3 2022
medline: 9 4 2022
Statut: epublish

Résumé

Genome-wide association studies (GWAS) provide  huge information on statistically significant single-nucleotide polymorphisms (SNPs) associated with various human complex traits and diseases. By performing GWAS studies, scientists have successfully identified the association of hundreds of thousands to  millions of SNPs to a single phenotype. Moreover, the association of some SNPs with rare diseases has been intensively tested. However, classic GWAS studies have not yet provided solid, knowledgeable insight into functional and biological mechanisms underlying phenotypes or mechanisms of diseases. Therefore, several post-GWAS (pGWAS) methods have been recommended. Currently, there is no simple scientific document to provide a quick guide for performing pGWAS analysis. pGWAS is a crucial step for a better understanding of the biological machinery beyond the SNPs. Here, we provide an overview to performing pGWAS analysis and demonstrate the challenges behind each method. Furthermore, we direct readers to key articles for each pGWAS method and present the overall issues in pGWAS analysis.  Finally, we include a custom pGWAS pipeline to guide new users when performing their research.

Identifiants

DOI: 10.12688/f1000research.53962.1 PMID: 35222990 PMC: PMC8847724
pubmed: 35222990
doi: 10.12688/f1000research.53962.1
pmc: PMC8847724
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1002

Subventions

Organisme : NHGRI NIH HHS
ID : U24 HG006941
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006938
Pays : United States

Informations de copyright

Copyright: © 2021 Adam Y et al.

Déclaration de conflit d'intérêts

No competing interests were disclosed.

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Auteurs

Yagoub Adam (Y)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun, 112233, Nigeria.
ORCID: 0000-0001-6874-2543

Chaimae Samtal (C)

Laboratory of Biotechnology, Environment, Agri-food and Health, Sidi Mohammed Ben Abdellah University, Fez, Fez-Meknes, 30000, Morocco.
ORCID: 0000-0003-4899-7463

Jean-Tristan Brandenburg (JT)

Sydney Brenner Institute for Molecular Bioscience (SBIMB), University of the Witwatersrand, Johannesburg, South Africa.
ORCID: 0000-0003-0197-2648

Oluwadamilare Falola (O)

Laboratory of Biotechnology, Environment, Agri-food and Health, Sidi Mohammed Ben Abdellah University, Fez, Fez-Meknes, 30000, Morocco.

Ezekiel Adebiyi (E)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun, 112233, Nigeria.
Computer & Information Sciences, Covenant University, Ota, Ogun, 112233, Nigeria.
Covenant Applied Informatics and Communication Africa Centre of Excellence, Covenant University, Ota, Ogun, 112233, Nigeria.
Applied Bioinformatics Division, German Cancer Center DKFZ - Heidelberg University, Heidelberg, Baden-Württemberg, 69120, Germany.
ORCID: 0000-0002-1390-2359

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Performing post-genome-wide association study...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Performing post-genome-wide association study...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Performing post-genome-wide association study...