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

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 c...

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Autores principales: Marees, Andries T., de Kluiver, Hilde, Stringer, Sven, Vorspan, Florence, Curis, Emmanuel, Marie‐Claire, Cynthia, Derks, Eske M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001694/
https://www.ncbi.nlm.nih.gov/pubmed/29484742
http://dx.doi.org/10.1002/mpr.1608
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author Marees, Andries T.
de Kluiver, Hilde
Stringer, Sven
Vorspan, Florence
Curis, Emmanuel
Marie‐Claire, Cynthia
Derks, Eske M.
author_facet Marees, Andries T.
de Kluiver, Hilde
Stringer, Sven
Vorspan, Florence
Curis, Emmanuel
Marie‐Claire, Cynthia
Derks, Eske M.
author_sort Marees, Andries T.
collection PubMed
description 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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spelling pubmed-60016942018-06-21 A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis Marees, Andries T. de Kluiver, Hilde Stringer, Sven Vorspan, Florence Curis, Emmanuel Marie‐Claire, Cynthia Derks, Eske M. Int J Methods Psychiatr Res Original Articles 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. John Wiley and Sons Inc. 2018-02-27 /pmc/articles/PMC6001694/ /pubmed/29484742 http://dx.doi.org/10.1002/mpr.1608 Text en © 2018 The Authors International Journal of Methods in Psychiatric Research Published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Original Articles
Marees, Andries T.
de Kluiver, Hilde
Stringer, Sven
Vorspan, Florence
Curis, Emmanuel
Marie‐Claire, Cynthia
Derks, Eske M.
A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title_full A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title_fullStr A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title_full_unstemmed A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title_short A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
title_sort tutorial on conducting genome‐wide association studies: quality control and statistical analysis
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001694/
https://www.ncbi.nlm.nih.gov/pubmed/29484742
http://dx.doi.org/10.1002/mpr.1608
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