Abstract
BackgroundIn contrast to currently used single nucleotide polymorphism (SNP) panels, the use of whole-genome sequence data is expected to enable the direct estimation of the effects of causal mutations on a given trait. This could lead to higher reliabilities of genomic predictions compared to those based on SNP genotypes. Also, at each generation of selection, recombination events between a SNP and a mutation can cause decay in reliability of genomic predictions based on markers rather than on the causal variants. Our objective was to investigate the use of imputed whole-genome sequence genotypes versus high-density SNP genotypes on (the persistency of) the reliability of genomic predictions using real cattle data.MethodsHighly accurate phenotypes based on daughter performance and Illumina BovineHD Beadchip genotypes were available for 5503 Holstein Friesian bulls. The BovineHD genotypes (631,428 SNPs) of each bull were used to impute whole-genome sequence genotypes (12,590,056 SNPs) using the Beagle software. Imputation was done using a multi-breed reference panel of 429 sequenced individuals. Genomic estimated breeding values for three traits were predicted using a Bayesian stochastic search variable selection (BSSVS) model and a genome-enabled best linear unbiased prediction model (GBLUP). Reliabilities of predictions were based on 2087 validation bulls, while the other 3416 bulls were used for training.ResultsPrediction reliabilities ranged from 0.37 to 0.52. BSSVS performed better than GBLUP in all cases. Reliabilities of genomic predictions were slightly lower with imputed sequence data than with BovineHD chip data. Also, the reliabilities tended to be lower for both sequence data and BovineHD chip data when relationships between training animals were low. No increase in persistency of prediction reliability using imputed sequence data was observed.ConclusionsCompared to BovineHD genotype data, using imputed sequence data for genomic prediction produced no advantage. To investigate the putative advantage of genomic prediction using (imputed) sequence data, a training set with a larger number of individuals that are distantly related to each other and genomic prediction models that incorporate biological information on the SNPs or that apply stricter SNP pre-selection should be considered.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-015-0149-x) contains supplementary material, which is available to authorized users.
Highlights
Genomic selection is increasingly applied in breeding programs for livestock and plant species, e.g. [1,2,3,4]
Inclusion of the causal mutations allows the effect of the quantitative trait loci (QTL) on a given trait to be estimated directly, which should increase the reliability of genomic predictions compared to using single nucleotide polymorphism (SNP) genotypes, as well as the persistency of the reliability of predictions across generations and even across breeds [11,12,13]
Descriptive results After editing SNPs for minor allele frequency (MAF) and imputation reliability, the final BovineHD and ImputedHD genotype dataset consisted of 631,428 SNPs and the imputed sequence genotype dataset of 12,590,056 SNPs
Summary
Genomic selection is increasingly applied in breeding programs for livestock and plant species, e.g. [1,2,3,4]. Inclusion of the causal mutations allows the effect of the QTL on a given trait to be estimated directly, which should increase the reliability of genomic predictions compared to using SNP genotypes, as well as the persistency of the reliability of predictions across generations and even across breeds [11,12,13]. In contrast to currently used single nucleotide polymorphism (SNP) panels, the use of whole-genome sequence data is expected to enable the direct estimation of the effects of causal mutations on a given trait. This could lead to higher reliabilities of genomic predictions compared to those based on SNP genotypes. Our objective was to investigate the use of imputed whole-genome sequence genotypes versus high-density SNP genotypes on (the persistency of) the reliability of genomic predictions using real cattle data
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