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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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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. |
format | Online Article Text |
id | pubmed-6001694 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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