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ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures

BACKGROUND: ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy for imputed genotypes is fundame...

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Autores principales: Thormann, Kolja A., Tozzi, Viola, Starke, Paula, Bickeböller, Heike, Baum, Marcus, Rosenberger, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351229/
https://www.ncbi.nlm.nih.gov/pubmed/35927623
http://dx.doi.org/10.1186/s12859-022-04863-z
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author Thormann, Kolja A.
Tozzi, Viola
Starke, Paula
Bickeböller, Heike
Baum, Marcus
Rosenberger, Albert
author_facet Thormann, Kolja A.
Tozzi, Viola
Starke, Paula
Bickeböller, Heike
Baum, Marcus
Rosenberger, Albert
author_sort Thormann, Kolja A.
collection PubMed
description BACKGROUND: ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy for imputed genotypes is fundamental. Several accuracy measures have been proposed, but unfortunately, they are implemented on different platforms, which is impractical. RESULTS: With ImputAccur, the accuracy measures info, Iam-hiQ and r(2)-based indices can be derived from standard output files of imputation software. Sample/probe and marker filtering is possible. This allows e.g. accurate marker filtering ahead of data analysis. CONCLUSIONS: The source code (Python version 3.9.4), a standalone executive file, and example data for ImputAccur are freely available at https://gitlab.gwdg.de/kolja.thormann1/imputationquality.git. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04863-z.
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spelling pubmed-93512292022-08-05 ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures Thormann, Kolja A. Tozzi, Viola Starke, Paula Bickeböller, Heike Baum, Marcus Rosenberger, Albert BMC Bioinformatics Software BACKGROUND: ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy for imputed genotypes is fundamental. Several accuracy measures have been proposed, but unfortunately, they are implemented on different platforms, which is impractical. RESULTS: With ImputAccur, the accuracy measures info, Iam-hiQ and r(2)-based indices can be derived from standard output files of imputation software. Sample/probe and marker filtering is possible. This allows e.g. accurate marker filtering ahead of data analysis. CONCLUSIONS: The source code (Python version 3.9.4), a standalone executive file, and example data for ImputAccur are freely available at https://gitlab.gwdg.de/kolja.thormann1/imputationquality.git. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04863-z. BioMed Central 2022-08-04 /pmc/articles/PMC9351229/ /pubmed/35927623 http://dx.doi.org/10.1186/s12859-022-04863-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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
Thormann, Kolja A.
Tozzi, Viola
Starke, Paula
Bickeböller, Heike
Baum, Marcus
Rosenberger, Albert
ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title_full ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title_fullStr ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title_full_unstemmed ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title_short ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
title_sort imputaccur: fast and user-friendly calculation of genotype-imputation accuracy-measures
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351229/
https://www.ncbi.nlm.nih.gov/pubmed/35927623
http://dx.doi.org/10.1186/s12859-022-04863-z
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