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Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans

BACKGROUND: Success in genome-wide association studies and marker-assisted selection depends on good phenotypic and genotypic data. The more complete this data is, the more powerful will be the results of analysis. Nevertheless, there are next-generation technologies that seek to provide genotypic i...

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Autores principales: Xavier, A., Muir, William M., Rainey, Katy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736474/
https://www.ncbi.nlm.nih.gov/pubmed/26830693
http://dx.doi.org/10.1186/s12859-016-0899-7
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author Xavier, A.
Muir, William M.
Rainey, Katy M.
author_facet Xavier, A.
Muir, William M.
Rainey, Katy M.
author_sort Xavier, A.
collection PubMed
description BACKGROUND: Success in genome-wide association studies and marker-assisted selection depends on good phenotypic and genotypic data. The more complete this data is, the more powerful will be the results of analysis. Nevertheless, there are next-generation technologies that seek to provide genotypic information in spite of great proportions of missing data. The procedures these technologies use to impute genetic data, therefore, greatly affect downstream analyses. This study aims to (1) compare the genetic variance in a single-nucleotide polymorphism panel of soybean with missing data imputed using various methods, (2) evaluate the imputation accuracy and post-imputation quality associated with these methods, and (3) evaluate the impact of imputation method on heritability and the accuracy of genome-wide prediction of soybean traits. The imputation methods we evaluated were as follows: multivariate mixed model, hidden Markov model, logical algorithm, k-nearest neighbor, single value decomposition, and random forest. We used raw genotypes from the SoyNAM project and the following phenotypes: plant height, days to maturity, grain yield, and seed protein composition. RESULTS: We propose an imputation method based on multivariate mixed models using pedigree information. Our methods comparison indicate that heritability of traits can be affected by the imputation method. Genotypes with missing values imputed with methods that make use of genealogic information can favor genetic analysis of highly polygenic traits, but not genome-wide prediction accuracy. The genotypic matrix captured the highest amount of genetic variance when missing loci were imputed by the method proposed in this paper. CONCLUSIONS: We concluded that hidden Markov models and random forest imputation are more suitable to studies that aim analyses of highly heritable traits while pedigree-based methods can be used to best analyze traits with low heritability. Despite the notable contribution to heritability, advantages in genomic prediction were not observed by changing the imputation method. We identified significant differences across imputation methods in a dataset missing 20 % of the genotypic values. It means that genotypic data from genotyping technologies that provide a high proportion of missing values, such as GBS, should be handled carefully because the imputation method will impact downstream analysis.
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spelling pubmed-47364742016-02-03 Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans Xavier, A. Muir, William M. Rainey, Katy M. BMC Bioinformatics Methodology Article BACKGROUND: Success in genome-wide association studies and marker-assisted selection depends on good phenotypic and genotypic data. The more complete this data is, the more powerful will be the results of analysis. Nevertheless, there are next-generation technologies that seek to provide genotypic information in spite of great proportions of missing data. The procedures these technologies use to impute genetic data, therefore, greatly affect downstream analyses. This study aims to (1) compare the genetic variance in a single-nucleotide polymorphism panel of soybean with missing data imputed using various methods, (2) evaluate the imputation accuracy and post-imputation quality associated with these methods, and (3) evaluate the impact of imputation method on heritability and the accuracy of genome-wide prediction of soybean traits. The imputation methods we evaluated were as follows: multivariate mixed model, hidden Markov model, logical algorithm, k-nearest neighbor, single value decomposition, and random forest. We used raw genotypes from the SoyNAM project and the following phenotypes: plant height, days to maturity, grain yield, and seed protein composition. RESULTS: We propose an imputation method based on multivariate mixed models using pedigree information. Our methods comparison indicate that heritability of traits can be affected by the imputation method. Genotypes with missing values imputed with methods that make use of genealogic information can favor genetic analysis of highly polygenic traits, but not genome-wide prediction accuracy. The genotypic matrix captured the highest amount of genetic variance when missing loci were imputed by the method proposed in this paper. CONCLUSIONS: We concluded that hidden Markov models and random forest imputation are more suitable to studies that aim analyses of highly heritable traits while pedigree-based methods can be used to best analyze traits with low heritability. Despite the notable contribution to heritability, advantages in genomic prediction were not observed by changing the imputation method. We identified significant differences across imputation methods in a dataset missing 20 % of the genotypic values. It means that genotypic data from genotyping technologies that provide a high proportion of missing values, such as GBS, should be handled carefully because the imputation method will impact downstream analysis. BioMed Central 2016-02-02 /pmc/articles/PMC4736474/ /pubmed/26830693 http://dx.doi.org/10.1186/s12859-016-0899-7 Text en © Xavier et al. 2016 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 Methodology Article
Xavier, A.
Muir, William M.
Rainey, Katy M.
Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title_full Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title_fullStr Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title_full_unstemmed Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title_short Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
title_sort impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans
topic Methodology Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736474/
https://www.ncbi.nlm.nih.gov/pubmed/26830693
http://dx.doi.org/10.1186/s12859-016-0899-7
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