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RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset

MOTIVATION: Polygenic scores (PGS) aim to genetically predict complex traits at an individual level. PGS are typically trained on genome-wide association summary statistics and require an independent test dataset to tune parameters. More recent methods allow parameters to be tuned on the training da...

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Autores principales: Reales, Guillermo, Vigorito, Elena, Kelemen, Martin, Wallace, Chris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8652106/
https://www.ncbi.nlm.nih.gov/pubmed/34145897
http://dx.doi.org/10.1093/bioinformatics/btab456
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author Reales, Guillermo
Vigorito, Elena
Kelemen, Martin
Wallace, Chris
author_facet Reales, Guillermo
Vigorito, Elena
Kelemen, Martin
Wallace, Chris
author_sort Reales, Guillermo
collection PubMed
description MOTIVATION: Polygenic scores (PGS) aim to genetically predict complex traits at an individual level. PGS are typically trained on genome-wide association summary statistics and require an independent test dataset to tune parameters. More recent methods allow parameters to be tuned on the training data, removing the need for independent test data, but approaches are computationally intensive. Based on fine-mapping principles, we present RápidoPGS, a flexible and fast method to compute PGS requiring summary-level Genome-wide association studies (GWAS) datasets only, with little computational requirements and no test data required for parameter tuning. RESULTS: We show that RápidoPGS performs slightly less well than two out of three other widely used PGS methods (LDpred2, PRScs and SBayesR) for case–control datasets, with median r(2) difference: -0.0092, -0.0042 and 0.0064, respectively, but up to 17 000-fold faster with reduced computational requirements. RápidoPGS is implemented in R and can work with user-supplied summary statistics or download them from the GWAS catalog. AVAILABILITY AND IMPLEMENTATION: Our method is available with a GPL license as an R package from CRAN and GitHub. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-86521062021-12-08 RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset Reales, Guillermo Vigorito, Elena Kelemen, Martin Wallace, Chris Bioinformatics Original Papers MOTIVATION: Polygenic scores (PGS) aim to genetically predict complex traits at an individual level. PGS are typically trained on genome-wide association summary statistics and require an independent test dataset to tune parameters. More recent methods allow parameters to be tuned on the training data, removing the need for independent test data, but approaches are computationally intensive. Based on fine-mapping principles, we present RápidoPGS, a flexible and fast method to compute PGS requiring summary-level Genome-wide association studies (GWAS) datasets only, with little computational requirements and no test data required for parameter tuning. RESULTS: We show that RápidoPGS performs slightly less well than two out of three other widely used PGS methods (LDpred2, PRScs and SBayesR) for case–control datasets, with median r(2) difference: -0.0092, -0.0042 and 0.0064, respectively, but up to 17 000-fold faster with reduced computational requirements. RápidoPGS is implemented in R and can work with user-supplied summary statistics or download them from the GWAS catalog. AVAILABILITY AND IMPLEMENTATION: Our method is available with a GPL license as an R package from CRAN and GitHub. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2021-06-19 /pmc/articles/PMC8652106/ /pubmed/34145897 http://dx.doi.org/10.1093/bioinformatics/btab456 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Papers
Reales, Guillermo
Vigorito, Elena
Kelemen, Martin
Wallace, Chris
RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title_full RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title_fullStr RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title_full_unstemmed RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title_short RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
title_sort rápidopgs: a rapid polygenic score calculator for summary gwas data without a test dataset
topic Original Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8652106/
https://www.ncbi.nlm.nih.gov/pubmed/34145897
http://dx.doi.org/10.1093/bioinformatics/btab456
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