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topr: an R package for viewing and annotating genetic association results

BACKGROUND: The successful identification of genetic loci for complex traits in genome-wide association studies (GWAS) has resulted in thousands of GWAS summary statistics becoming publicly available for hundreds of complex traits from multiple cohorts and studies. Visualisation is an important aid...

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Autor principal: Juliusdottir, Thorhildur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308657/
https://www.ncbi.nlm.nih.gov/pubmed/37380954
http://dx.doi.org/10.1186/s12859-023-05301-4
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author Juliusdottir, Thorhildur
author_facet Juliusdottir, Thorhildur
author_sort Juliusdottir, Thorhildur
collection PubMed
description BACKGROUND: The successful identification of genetic loci for complex traits in genome-wide association studies (GWAS) has resulted in thousands of GWAS summary statistics becoming publicly available for hundreds of complex traits from multiple cohorts and studies. Visualisation is an important aid for interpreting, comparing, validating, and obtaining an overview of large amounts of data. However, the current software is limited in its ability and flexibility to annotate and simultaneously display multiple GWAS results which is useful when interpreting and comparing association results. Therefore, I created the topr R package to facilitate visualisation, annotation, and comparisons of single or multiple GWAS results. It contains functions tailored for viewing and analysing GWAS results. RESULTS: topr provides a fast and elegant visual display of association results, along with the annotation of association peaks with their nearest gene. Association results from multiple analyses can be viewed simultaneously over the entire genome or in a more detailed regional view along with gene information. Users can perform the essential steps of visually exploring and annotating association results and generating elegant publication-ready plots. CONCLUSIONS: topr is developed as a package for the R statistical computing environment, released under the GNU General Public License, and is freely available on the Comprehensive R Archive Network (http://cran.r-project.org/package=topr). The source code is available at GitHub (https://github.com/totajuliusd/topr). topr provides several advantages and advances over the current alternatives, particularly in its gene annotation functionality and customisable display of single- or multiple-association results. With topr, I provide a flexible tool with multiple features to aid in the analysis and evaluation of GWAS association results.
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spelling pubmed-103086572023-06-30 topr: an R package for viewing and annotating genetic association results Juliusdottir, Thorhildur BMC Bioinformatics Software BACKGROUND: The successful identification of genetic loci for complex traits in genome-wide association studies (GWAS) has resulted in thousands of GWAS summary statistics becoming publicly available for hundreds of complex traits from multiple cohorts and studies. Visualisation is an important aid for interpreting, comparing, validating, and obtaining an overview of large amounts of data. However, the current software is limited in its ability and flexibility to annotate and simultaneously display multiple GWAS results which is useful when interpreting and comparing association results. Therefore, I created the topr R package to facilitate visualisation, annotation, and comparisons of single or multiple GWAS results. It contains functions tailored for viewing and analysing GWAS results. RESULTS: topr provides a fast and elegant visual display of association results, along with the annotation of association peaks with their nearest gene. Association results from multiple analyses can be viewed simultaneously over the entire genome or in a more detailed regional view along with gene information. Users can perform the essential steps of visually exploring and annotating association results and generating elegant publication-ready plots. CONCLUSIONS: topr is developed as a package for the R statistical computing environment, released under the GNU General Public License, and is freely available on the Comprehensive R Archive Network (http://cran.r-project.org/package=topr). The source code is available at GitHub (https://github.com/totajuliusd/topr). topr provides several advantages and advances over the current alternatives, particularly in its gene annotation functionality and customisable display of single- or multiple-association results. With topr, I provide a flexible tool with multiple features to aid in the analysis and evaluation of GWAS association results. BioMed Central 2023-06-28 /pmc/articles/PMC10308657/ /pubmed/37380954 http://dx.doi.org/10.1186/s12859-023-05301-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Juliusdottir, Thorhildur
topr: an R package for viewing and annotating genetic association results
title topr: an R package for viewing and annotating genetic association results
title_full topr: an R package for viewing and annotating genetic association results
title_fullStr topr: an R package for viewing and annotating genetic association results
title_full_unstemmed topr: an R package for viewing and annotating genetic association results
title_short topr: an R package for viewing and annotating genetic association results
title_sort topr: an r package for viewing and annotating genetic association results
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308657/
https://www.ncbi.nlm.nih.gov/pubmed/37380954
http://dx.doi.org/10.1186/s12859-023-05301-4
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