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The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associat...

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Autores principales: Page, Madeline L., Vance, Elizabeth L., Cloward, Matthew E., Ringger, Ed, Dayton, Louisa, Ebbert, Mark T. W., Miller, Justin B., Kauwe, John S. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438378/
https://www.ncbi.nlm.nih.gov/pubmed/36056235
http://dx.doi.org/10.1038/s42003-022-03795-x
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author Page, Madeline L.
Vance, Elizabeth L.
Cloward, Matthew E.
Ringger, Ed
Dayton, Louisa
Ebbert, Mark T. W.
Miller, Justin B.
Kauwe, John S. K.
author_facet Page, Madeline L.
Vance, Elizabeth L.
Cloward, Matthew E.
Ringger, Ed
Dayton, Louisa
Ebbert, Mark T. W.
Miller, Justin B.
Kauwe, John S. K.
author_sort Page, Madeline L.
collection PubMed
description The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.
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spelling pubmed-94383782022-09-02 The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores Page, Madeline L. Vance, Elizabeth L. Cloward, Matthew E. Ringger, Ed Dayton, Louisa Ebbert, Mark T. W. Miller, Justin B. Kauwe, John S. K. Commun Biol Article The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research. Nature Publishing Group UK 2022-09-02 /pmc/articles/PMC9438378/ /pubmed/36056235 http://dx.doi.org/10.1038/s42003-022-03795-x Text en © The Author(s) 2022 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Page, Madeline L.
Vance, Elizabeth L.
Cloward, Matthew E.
Ringger, Ed
Dayton, Louisa
Ebbert, Mark T. W.
Miller, Justin B.
Kauwe, John S. K.
The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title_full The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title_fullStr The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title_full_unstemmed The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title_short The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
title_sort polygenic risk score knowledge base offers a centralized online repository for calculating and contextualizing polygenic risk scores
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438378/
https://www.ncbi.nlm.nih.gov/pubmed/36056235
http://dx.doi.org/10.1038/s42003-022-03795-x
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