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Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle

BACKGROUND: Within the last few years a large amount of genomic information has become available in cattle. Densities of genomic information vary from a few thousand variants up to whole genome sequence information. In order to combine genomic information from different sources and infer genotypes f...

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Autores principales: Frischknecht, Mirjam, Pausch, Hubert, Bapst, Beat, Signer-Hasler, Heidi, Flury, Christine, Garrick, Dorian, Stricker, Christian, Fries, Ruedi, Gredler-Grandl, Birgit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747239/
https://www.ncbi.nlm.nih.gov/pubmed/29284405
http://dx.doi.org/10.1186/s12864-017-4390-2
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author Frischknecht, Mirjam
Pausch, Hubert
Bapst, Beat
Signer-Hasler, Heidi
Flury, Christine
Garrick, Dorian
Stricker, Christian
Fries, Ruedi
Gredler-Grandl, Birgit
author_facet Frischknecht, Mirjam
Pausch, Hubert
Bapst, Beat
Signer-Hasler, Heidi
Flury, Christine
Garrick, Dorian
Stricker, Christian
Fries, Ruedi
Gredler-Grandl, Birgit
author_sort Frischknecht, Mirjam
collection PubMed
description BACKGROUND: Within the last few years a large amount of genomic information has become available in cattle. Densities of genomic information vary from a few thousand variants up to whole genome sequence information. In order to combine genomic information from different sources and infer genotypes for a common set of variants, genotype imputation is required. RESULTS: In this study we evaluated the accuracy of imputation from high density chips to whole genome sequence data in Brown Swiss cattle. Using four popular imputation programs (Beagle, FImpute, Impute2, Minimac) and various compositions of reference panels, the accuracy of the imputed sequence variant genotypes was high and differences between the programs and scenarios were small. We imputed sequence variant genotypes for more than 1600 Brown Swiss bulls and performed genome-wide association studies for milk fat percentage at two stages of lactation. We found one and three quantitative trait loci for early and late lactation fat content, respectively. Known causal variants that were imputed from the sequenced reference panel were among the most significantly associated variants of the genome-wide association study. CONCLUSIONS: Our study demonstrates that whole-genome sequence information can be imputed at high accuracy in cattle populations. Using imputed sequence variant genotypes in genome-wide association studies may facilitate causal variant detection. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12864-017-4390-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-57472392018-01-03 Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle Frischknecht, Mirjam Pausch, Hubert Bapst, Beat Signer-Hasler, Heidi Flury, Christine Garrick, Dorian Stricker, Christian Fries, Ruedi Gredler-Grandl, Birgit BMC Genomics Research Article BACKGROUND: Within the last few years a large amount of genomic information has become available in cattle. Densities of genomic information vary from a few thousand variants up to whole genome sequence information. In order to combine genomic information from different sources and infer genotypes for a common set of variants, genotype imputation is required. RESULTS: In this study we evaluated the accuracy of imputation from high density chips to whole genome sequence data in Brown Swiss cattle. Using four popular imputation programs (Beagle, FImpute, Impute2, Minimac) and various compositions of reference panels, the accuracy of the imputed sequence variant genotypes was high and differences between the programs and scenarios were small. We imputed sequence variant genotypes for more than 1600 Brown Swiss bulls and performed genome-wide association studies for milk fat percentage at two stages of lactation. We found one and three quantitative trait loci for early and late lactation fat content, respectively. Known causal variants that were imputed from the sequenced reference panel were among the most significantly associated variants of the genome-wide association study. CONCLUSIONS: Our study demonstrates that whole-genome sequence information can be imputed at high accuracy in cattle populations. Using imputed sequence variant genotypes in genome-wide association studies may facilitate causal variant detection. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12864-017-4390-2) contains supplementary material, which is available to authorized users. BioMed Central 2017-12-29 /pmc/articles/PMC5747239/ /pubmed/29284405 http://dx.doi.org/10.1186/s12864-017-4390-2 Text en © The Author(s). 2017 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 Research Article
Frischknecht, Mirjam
Pausch, Hubert
Bapst, Beat
Signer-Hasler, Heidi
Flury, Christine
Garrick, Dorian
Stricker, Christian
Fries, Ruedi
Gredler-Grandl, Birgit
Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title_full Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title_fullStr Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title_full_unstemmed Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title_short Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle
title_sort highly accurate sequence imputation enables precise qtl mapping in brown swiss cattle
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747239/
https://www.ncbi.nlm.nih.gov/pubmed/29284405
http://dx.doi.org/10.1186/s12864-017-4390-2
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