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Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers

BACKGROUND: Over the last 10 years, there have been over 3300 genome-wide association studies (GWAS). Almost every GWAS study provides a Manhattan plot either as a main figure or in the supplement. Several software packages can generate a Manhattan plot, but they are all limited in the extent to whi...

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Autores principales: Grace, Christopher, Farrall, Martin, Watkins, Hugh, Goel, Anuj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882345/
https://www.ncbi.nlm.nih.gov/pubmed/31775616
http://dx.doi.org/10.1186/s12859-019-3201-y
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author Grace, Christopher
Farrall, Martin
Watkins, Hugh
Goel, Anuj
author_facet Grace, Christopher
Farrall, Martin
Watkins, Hugh
Goel, Anuj
author_sort Grace, Christopher
collection PubMed
description BACKGROUND: Over the last 10 years, there have been over 3300 genome-wide association studies (GWAS). Almost every GWAS study provides a Manhattan plot either as a main figure or in the supplement. Several software packages can generate a Manhattan plot, but they are all limited in the extent to which they can annotate gene-names, allele frequencies, and variants having high impact on gene function or provide any other added information or flexibility. Furthermore, in a conventional Manhattan plot, there is no way of distinguishing a locus identified due to a single variant with very significant p-value from a locus with multiple variants which appear to be in a haplotype block having very similar p-values. RESULTS: Here we present a software tool written in R, which generates a transposed Manhattan plot along with additional features like variant consequence and minor allele frequency to annotate the plot and addresses these limitations. The software also gives flexibility on how and where the user wants to display the annotations. The software can be downloaded from CRAN repository and also from the GitHub project page. CONCLUSIONS: We present a major step up to the existing conventional Manhattan plot generation tools. We hope this form of display along with the added annotations will bring more insight to the reader from this new Manhattan++ plot.
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spelling pubmed-68823452019-12-03 Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers Grace, Christopher Farrall, Martin Watkins, Hugh Goel, Anuj BMC Bioinformatics Software BACKGROUND: Over the last 10 years, there have been over 3300 genome-wide association studies (GWAS). Almost every GWAS study provides a Manhattan plot either as a main figure or in the supplement. Several software packages can generate a Manhattan plot, but they are all limited in the extent to which they can annotate gene-names, allele frequencies, and variants having high impact on gene function or provide any other added information or flexibility. Furthermore, in a conventional Manhattan plot, there is no way of distinguishing a locus identified due to a single variant with very significant p-value from a locus with multiple variants which appear to be in a haplotype block having very similar p-values. RESULTS: Here we present a software tool written in R, which generates a transposed Manhattan plot along with additional features like variant consequence and minor allele frequency to annotate the plot and addresses these limitations. The software also gives flexibility on how and where the user wants to display the annotations. The software can be downloaded from CRAN repository and also from the GitHub project page. CONCLUSIONS: We present a major step up to the existing conventional Manhattan plot generation tools. We hope this form of display along with the added annotations will bring more insight to the reader from this new Manhattan++ plot. BioMed Central 2019-11-27 /pmc/articles/PMC6882345/ /pubmed/31775616 http://dx.doi.org/10.1186/s12859-019-3201-y Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Grace, Christopher
Farrall, Martin
Watkins, Hugh
Goel, Anuj
Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title_full Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title_fullStr Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title_full_unstemmed Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title_short Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
title_sort manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882345/
https://www.ncbi.nlm.nih.gov/pubmed/31775616
http://dx.doi.org/10.1186/s12859-019-3201-y
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