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      Genomic prediction with whole-genome sequence data in intensely selected pig lines

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          Abstract

          Background

          Early simulations indicated that whole-genome sequence data (WGS) could improve the accuracy of genomic predictions within and across breeds. However, empirical results have been ambiguous so far. Large datasets that capture most of the genomic diversity in a population must be assembled so that allele substitution effects are estimated with high accuracy. The objectives of this study were to use a large pig dataset from seven intensely selected lines to assess the benefits of using WGS for genomic prediction compared to using commercial marker arrays and to identify scenarios in which WGS provides the largest advantage.

          Methods

          We sequenced 6931 individuals from seven commercial pig lines with different numerical sizes. Genotypes of 32.8 million variants were imputed for 396,100 individuals (17,224 to 104,661 per line). We used BayesR to perform genomic prediction for eight complex traits. Genomic predictions were performed using either data from a standard marker array or variants preselected from WGS based on association tests.

          Results

          The accuracies of genomic predictions based on preselected WGS variants were not robust across traits and lines and the improvements in prediction accuracy that we achieved so far with WGS compared to standard marker arrays were generally small. The most favourable results for WGS were obtained when the largest training sets were available and standard marker arrays were augmented with preselected variants with statistically significant associations to the trait. With this method and training sets of around 80k individuals, the accuracy of within-line genomic predictions was on average improved by 0.025. With multi-line training sets, improvements of 0.04 compared to marker arrays could be expected.

          Conclusions

          Our results showed that WGS has limited potential to improve the accuracy of genomic predictions compared to marker arrays in intensely selected pig lines. Thus, although we expect that larger improvements in accuracy from the use of WGS are possible with a combination of larger training sets and optimised pipelines for generating and analysing such datasets, the use of WGS in the current implementations of genomic prediction should be carefully evaluated against the cost of large-scale WGS data on a case-by-case basis.

          Supplementary Information

          The online version contains supplementary material available at 10.1186/s12711-022-00756-0.

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          Most cited references78

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          Trimmomatic: a flexible trimmer for Illumina sequence data

          Motivation: Although many next-generation sequencing (NGS) read preprocessing tools already existed, we could not find any tool or combination of tools that met our requirements in terms of flexibility, correct handling of paired-end data and high performance. We have developed Trimmomatic as a more flexible and efficient preprocessing tool, which could correctly handle paired-end data. Results: The value of NGS read preprocessing is demonstrated for both reference-based and reference-free tasks. Trimmomatic is shown to produce output that is at least competitive with, and in many cases superior to, that produced by other tools, in all scenarios tested. Availability and implementation: Trimmomatic is licensed under GPL V3. It is cross-platform (Java 1.5+ required) and available at http://www.usadellab.org/cms/index.php?page=trimmomatic Contact: usadel@bio1.rwth-aachen.de Supplementary information: Supplementary data are available at Bioinformatics online.
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            The Sequence Alignment/Map format and SAMtools

            Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: rd@sanger.ac.uk
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              The variant call format and VCFtools

              Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API. Availability: http://vcftools.sourceforge.net Contact: rd@sanger.ac.uk
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                Author and article information

                Contributors
                roger.ros@roslin.ed.ac.uk
                martin.johnsson@roslin.ed.ac.uk
                andrew.whalen@roslin.ed.ac.uk
                ching-yi.chen@genusplc.com
                bruno.valente@genusplc.com
                william.herring@genusplc.com
                gregor.gorjanc@roslin.ed.ac.uk
                john.hickey@roslin.ed.ac.uk
                Journal
                Genet Sel Evol
                Genet Sel Evol
                Genetics, Selection, Evolution : GSE
                BioMed Central (London )
                0999-193X
                1297-9686
                24 September 2022
                24 September 2022
                2022
                : 54
                : 65
                Affiliations
                [1 ]GRID grid.4305.2, ISNI 0000 0004 1936 7988, The Roslin Institute and Royal (Dick) School of Veterinary Studies, , The University of Edinburgh, ; Easter Bush, Midlothian, Scotland, UK
                [2 ]GRID grid.15043.33, ISNI 0000 0001 2163 1432, Departament de Ciència Animal, , Universitat de Lleida-Agrotecnio-CERCA Center, ; Lleida, Spain
                [3 ]GRID grid.6341.0, ISNI 0000 0000 8578 2742, Department of Animal Breeding and Genetics, , Swedish University of Agricultural Sciences, ; Uppsala, Sweden
                [4 ]The Pig Improvement Company, Genus Plc, Hendersonville, TN USA
                Author information
                http://orcid.org/0000-0002-3745-6736
                Article
                756
                10.1186/s12711-022-00756-0
                9509613
                36153511
                1699e471-dd5a-49a6-9af1-07d79dcfc8a2
                © The Author(s) 2022

                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/. 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 in a credit line to the data.

                History
                : 28 January 2022
                : 5 September 2022
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100000268, Biotechnology and Biological Sciences Research Council;
                Award ID: BBS/E/D/30002275
                Award ID: BB/N004736/1
                Award ID: BB/N015339/1
                Award ID: BB/L020467/1
                Award ID: BB/M009254/1
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100006041, Innovate UK;
                Award ID: 102271
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100001862, Svenska Forskningsrådet Formas;
                Award ID: Dnr 2016-01386
                Award Recipient :
                Funded by: Genus plc
                Categories
                Research Article
                Custom metadata
                © The Author(s) 2022

                Genetics
                Genetics

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