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 fundamen...
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| Published in | BMC bioinformatics Vol. 23; no. 1; pp. 316 - 6 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
London
BioMed Central
04.08.2022
Springer Nature B.V BMC |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1471-2105 1471-2105 |
| DOI | 10.1186/s12859-022-04863-z |
Cover
| Abstract | 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
. |
|---|---|
| AbstractList | Abstract 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 . 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 . 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. With ImputAccur, the accuracy measures info, Iam-hiQ and r -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. 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 . 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.BACKGROUNDImputAccur 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.With ImputAccur, the accuracy measures info, Iam-hiQ and r2-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.RESULTSWith ImputAccur, the accuracy measures info, Iam-hiQ and r2-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.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 .CONCLUSIONSThe 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 . 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 r2-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. |
| ArticleNumber | 316 |
| Author | Starke, Paula Rosenberger, Albert Tozzi, Viola Baum, Marcus Thormann, Kolja A. Bickeböller, Heike |
| Author_xml | – sequence: 1 givenname: Kolja A. surname: Thormann fullname: Thormann, Kolja A. email: koljaalexander.thormann@uni-goettingen.de organization: Institute of Computer Science, Georg-August-University Göttingen – sequence: 2 givenname: Viola surname: Tozzi fullname: Tozzi, Viola organization: Department of Genetic Epidemiology, University Medical Center Göttingen – sequence: 3 givenname: Paula surname: Starke fullname: Starke, Paula organization: Department of Genetic Epidemiology, University Medical Center Göttingen – sequence: 4 givenname: Heike surname: Bickeböller fullname: Bickeböller, Heike organization: Department of Genetic Epidemiology, University Medical Center Göttingen – sequence: 5 givenname: Marcus surname: Baum fullname: Baum, Marcus organization: Institute of Computer Science, Georg-August-University Göttingen – sequence: 6 givenname: Albert orcidid: 0000-0001-7848-1332 surname: Rosenberger fullname: Rosenberger, Albert email: arosenb@gwdg.de organization: Department of Genetic Epidemiology, University Medical Center Göttingen |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/35927623$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/nprot.2014.071 10.1038/ejhg.2017.51 10.1016/j.ajhg.2009.01.005 10.1186/1755-8794-5-12 10.1038/nrg2796 10.1186/s12859-022-04568-3 10.1007/978-1-62703-447-0_17 10.1146/annurev-genom-083117-021602 |
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| Copyright | The Author(s) 2022 2022. The Author(s). 2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
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| Keywords | Marker selection Accuracy Imputation GWAS SNP Quality control |
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| References | TW Winkler (4863_CR4) 2014; 9 M Mitt (4863_CR7) 2017; 25 S Krithika (4863_CR8) 2012; 5 JM Hickey (4863_CR1) 2013; 1019 A Rosenberger (4863_CR6) 2022; 23 BL Browning (4863_CR5) 2009; 84 S Das (4863_CR2) 2018; 31 J Marchini (4863_CR3) 2010; 11 |
| References_xml | – volume: 9 start-page: 1192 issue: 5 year: 2014 ident: 4863_CR4 publication-title: Nat Protoc doi: 10.1038/nprot.2014.071 – volume: 25 start-page: 869 issue: 7 year: 2017 ident: 4863_CR7 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2017.51 – volume: 84 start-page: 210 issue: 2 year: 2009 ident: 4863_CR5 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2009.01.005 – volume: 5 start-page: 12 year: 2012 ident: 4863_CR8 publication-title: BMC Med Genom doi: 10.1186/1755-8794-5-12 – volume: 11 start-page: 499 issue: 7 year: 2010 ident: 4863_CR3 publication-title: Nat Rev Genet doi: 10.1038/nrg2796 – volume: 23 start-page: 50 issue: 1 year: 2022 ident: 4863_CR6 publication-title: BMC Bioinform doi: 10.1186/s12859-022-04568-3 – volume: 1019 start-page: 395 year: 2013 ident: 4863_CR1 publication-title: Methods Mol Biol doi: 10.1007/978-1-62703-447-0_17 – volume: 31 start-page: 73 issue: 19 year: 2018 ident: 4863_CR2 publication-title: Annu Rev Genom Hum Genet doi: 10.1146/annurev-genom-083117-021602 |
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| Snippet | Background
ImputAccur
is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide... ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide association studies... Background ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide... Abstract Background ImputAccur is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide... |
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| SubjectTerms | Accuracy Algorithms Bioinformatics Biomedical and Life Sciences Chromosomes Classification Computational Biology/Bioinformatics Computer Appl. in Life Sciences Data analysis Filtration Genome-wide association studies Genome-Wide Association Study Genomes Genotype Genotype & phenotype Genotypes GWAS Imputation Life Sciences Marker selection Markers Microarrays Names Polymorphism, Single Nucleotide Quality control SNP Software Source code |
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| Title | ImputAccur: fast and user-friendly calculation of genotype-imputation accuracy-measures |
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