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Background: Genotyping by sequencing (GBS) still has problems with missing genotypes. Imputation is important for using GBS for genomic predictions, especially for low depths, due to the large number of missing genotypes. Minor allele frequency (MAF) is widely used as a marker data editing criteria for genomic predictions. In this study, three imputation methods (Beagle, IMPUTE2 and FImpute software) based on four MAF editing criteria were investigated with regard to imputation accuracy of missing genotypes and accuracy of genomic predictions, based on simulated data of livestock population. Results: Four MAFs (no MAF limit, MAF ≥ 0.001, MAF ≥ 0.01 and MAF ≥ 0.03) were used for editing marker data before imputation. Beagle, IMPUTE2 and FImpute software were applied to impute the original GBS. Additionally, IMPUTE2 also imputed the expected genotype dosage after genotype correction (GcIM). The reliability of genomic predictions was calculated using GBS and imputed GBS data. The results showed that imputation accuracies were the same for the three imputation methods, except for the data of sequencing read depth (depth) = 2, where FImpute had a slightly lower imputation accuracy than Beagle and IMPUTE2. GcIM was observed to be the best for all of the imputations at depth = 4, 5 and 10, but the worst for depth = 2. For genomic prediction, retaining more SNPs with no MAF limit resulted in higher reliability. As the depth increased to 10, the prediction reliabilities approached those using true genotypes in the GBS loci. Beagle and IMPUTE2 had the largest increases in prediction reliability of 5 percentage points, and FImpute gained 3 percentage points at depth = 2. The best prediction was observed at depth = 4, 5 and 10 using GcIM, but the worst prediction was also observed using GcIM at depth = 2. Conclusions: The current study showed that imputation accuracies were relatively low for GBS with low depths and high for GBS with high depths. Imputation resulted in larger gains in the reliability of genomic predictions for GBS with lower depths. These results suggest that the application of IMPUTE2, based on a corrected GBS (GcIM) to improve genomic predictions for higher depths, and FImpute software could be a good alternative for routine imputation. [ABSTRACT FROM AUTHOR]

Reproductive traits of dairy cattle are bound to the actual efficiency of farm operation, which therefore show great economic importance. Among them, some traits were deemed to be simultaneously affected by service sire and mating cow. Service sires are proved to play an important role in reproduction process of cows. However, limited study explored the genetic effect of service sire (GESS), let alone the genomic prediction of this effect. In the present study, 2244 genotyped bulls together with phenotypic records were used to predict the GESS on conception rate, 56‐day non‐return rate, calving ease, stillbirth and gestation length. The feasibilities of multi‐step genomic best linear unbiased predictor (msGBLUP) and single‐step genomic best linear unbiased predictor (ssGBLUP) were investigated under different scenarios, that is, different marker densities and validation population. The predictive accuracies and unbiasedness for GESS ranged from 0.159 to 0.647 and from 0.202 to 2.018, respectively, when validated on young bulls, while the accuracies and unbiasedness ranged from 0.409 to 0.802 and 0.333 to 1.146 when validated on random split data sets. It is feasible to predict GESS on reproductive traits by using a linear mixed model and genomic data, and high‐density marker panel had limited contribution to the prediction. This research investigated the potential factors that influence the genomic prediction of GESS on reproductive traits and indicated the possibility of genomic selection on GESS, both in ideal and practical circumstances. [ABSTRACT FROM AUTHOR]

Simple Summary: The size of the reference population is critical to the accuracy of genomic prediction. In addition, joining the reference populations from different breeding organizations is a convenient and effective method by which to enlarge reference populations. By adding the Nordic Holstein reference population to the Chinese Holstein reference population, we found that the accuracy of genomic prediction in the Chinese Holstein population was improved substantially for the traits with high or moderate genetic correlation between the two populations; however, the low-genetic-correlation traits did not improve. These findings are important for the purposes of multi-country joint genomic evaluation. The size of the reference population is critical in order to improve the accuracy of genomic prediction. Indeed, improving genomic prediction accuracy by combining multinational reference populations has proven to be effective. In this study, we investigated the improvement of genomic prediction accuracy in seven complex traits (i.e., milk yield; fat yield; protein yield; somatic cell count; body conformation; feet and legs; and mammary system conformation) by combining the Chinese and Nordic Holstein reference populations. The estimated genetic correlations between the Chinese and Nordic Holstein populations are high with respect to protein yield, fat yield, and milk yield—whereby these correlations range from 0.621 to 0.720—and are moderate with respect to somatic cell count (0.449), but low for the three conformation traits (which range from 0.144 to 0.236). When utilizing the joint reference data and a two-trait GBLUP model, the genomic prediction accuracy in the Chinese Holsteins improves considerably with respect to the traits with moderate-to-high genetic correlations, whereas the improvement in Nordic Holsteins is small. When compared with the single population analysis, using the joint reference population for genomic prediction in younger animals, results in a 2.3 to 8.1 percent improvement in accuracy. Meanwhile, 10 replications of five-fold cross-validation were also implemented in order to evaluate the performance of joint genomic prediction, thereby resulting in a 1.6 to 5.2 percent increase in accuracy. With respect to joint genomic prediction, the bias was found to be quite low. However, for traits with low genetic correlations, the joint reference data do not improve the prediction accuracy substantially for either population. [ABSTRACT FROM AUTHOR]

Background: Survival from birth to slaughter is an important economic trait in commercial pig productions. Increasing survival can improve both economic efficiency and animal welfare. The aim of this study is to explore the impact of genotyping strategies and statistical models on the accuracy of genomic prediction for survival in pigs during the total growing period from birth to slaughter. Results: We simulated pig populations with different direct and maternal heritabilities and used a linear mixed model, a logit model, and a probit model to predict genomic breeding values of pig survival based on data of individual survival records with binary outcomes (0, 1). The results show that in the case of only alive animals having genotype data, unbiased genomic predictions can be achieved when using variances estimated from pedigree-based model. Models using genomic information achieved up to 59.2% higher accuracy of estimated breeding value compared to pedigree-based model, dependent on genotyping scenarios. The scenario of genotyping all individuals, both dead and alive individuals, obtained the highest accuracy. When an equal number of individuals (80%) were genotyped, random sample of individuals with genotypes achieved higher accuracy than only alive individuals with genotypes. The linear model, logit model and probit model achieved similar accuracy. Conclusions: Our conclusion is that genomic prediction of pig survival is feasible in the situation that only alive pigs have genotypes, but genomic information of dead individuals can increase accuracy of genomic prediction by 2.06% to 6.04%. [ABSTRACT FROM AUTHOR]

Integrating the single‐nucleotide polymorphisms (SNPs) significantly affecting target traits from imputed whole‐genome sequencing (iWGS) data into the genomic prediction (GP) model is an economic, efficient, and feasible strategy to improve prediction accuracy. The objective was to dissect the genetic architecture of intramuscular fat content (IFC) by genome wide association studies (GWAS) and to investigate the accuracy of GP based on pedigree‐based BLUP (PBLUP) model, genomic best linear unbiased prediction (GBLUP) models and Bayesian mixture (BayesMix) models under different strategies. A total of 482 Suhuai pigs were genotyped using an 80 K SNP chip. Furthermore, 30 key samples were selected for resequencing and were used as a reference panel to impute the 80 K chip data to the WGS dataset. The 80 K data and iWGS data were used to perform GWAS and test GP accuracies under different scenarios. GWAS results revealed that there were four major regions affecting IFC. Two important functional candidate genes were found in the two most significant regions, including protein kinase C epsilon (PRKCE) and myosin light chain 2 (MYL2). The results of the predictions showed that the PBLUP model had the lowest reliability (0.096 ± 0.032). The reliability (0.229 ± 0.035) was improved by replacing pedigree information with 80 K chip data. Compared with using 80 K SNPs alone, pruning iWGS SNPs with the R‐squared cutoff of linkage disequilibrium (0.55) led to a slight improvement (0.006), adding significant iWGS SNPs led to an improvement of reliability by 0.050 when using a one‐component GBLUP, a further increase of 0.033 when using a two‐component GBLUP model. For BayesMix models, compared with using 80 K SNPs alone, adding additional significant iWGS SNPs into one‐ or two‐component BayesMix models led to improvements of reliabilities for IFC by 0.040 and 0.089, respectively. Our results may facilitate further identification of causal genes for IFC and may be beneficial for the improvement of IFC in pig breeding programs. [ABSTRACT FROM AUTHOR]

Relatedness between reference and test animals has an important effect on the reliability of genomic prediction for test animals. Because genomic prediction has been widely applied in practical cattle breeding and bulls have been selected according to genomic breeding value without progeny testing, the sires or grandsires of candidates might not have phenotypic information and might not be in the reference population when the candidates are selected. The objective of this study was to investigate the decreasing trend of the reliability of genomic prediction given distant reference populations, using genomic best linear unbiased prediction (GBLUP) and Bayesian variable selection models with or without including the quantitative trait locus (QTL) markers detected from sequencing data. The data used in this study consisted of 22,242 bulls genotyped using the 54K SNP array from EuroGenomics. Among them, 1,444 Danish bulls born from 2006 to 2010 were selected as test animals. Different reference populations with varying relationships to test animals were created according to pedigree-based relationships. The reference individuals having a relationship with one or more test animals higher than 0.4 (scenario ρ < 0.4), 0.2 (ρ < 0.2), or 0.1 (ρ < 0.1, where ρ = relationship coefficient) were removed from reference sets; these represented the distance between reference and test animals being 2 generations, 3 generations, and 4 generations, respectively. Imputed whole-genome sequencing data of bulls from Denmark were used to conduct a genome-wide association study (GWAS). A small number of significant variants (QTL markers) from the GWAS were added to the array data. To compare the effects of different models, the basic GBLUP model, a Bayesian selection variable model, a GBLUP model with 2 components of genetic effects, and a Bayesian model with pooled array data and QTL markers were used for estimating genomic estimated breeding values (GEBV) of test animals. The reliability of genomic prediction decreased when the test animals were more generations away from the reference population. The reliability of genomic prediction was 0.461 for 1 generation away and 0.396 for 3 generations away, with the same number of individuals in the reference set, using a GBLUP model with chip markers only. The results showed that using the Bayesian method and QTL markers improved the reliability of genomic prediction in all scenarios of relationship between test and reference animals, in a range of 1.3% and 65.1% (4 generations away with only 841 individuals in the reference set). However, most gains were for predictions of milk yield and fat yield. There was little improvement for predictions of protein yield and mastitis, and no improvement for prediction of fertility, except for scenario ρ < 0.1, in which there was a large improvement for predictions of all traits. On the other hand, models including more than 10% polygenic effect decreased prediction reliability when the relationship between test and reference animals was distant. [ABSTRACT FROM AUTHOR]

Background: A better understanding of the genetic architecture underlying complex traits (e.g., the distribution of causal variants and their effects) may aid in the genomic prediction. Here, we hypothesized that the genomic variants of complex traits might be enriched in a subset of genomic regions defined by genes grouped on the basis of "Gene Ontology" (GO), and that incorporating this independent biological information into genomic prediction models might improve their predictive ability. Results: Four complex traits (i.e., milk, fat and protein yields, and mastitis) together with imputed sequence variants in Holstein (HOL) and Jersey (JER) cattle were analysed. We first carried out a post-GWAS analysis in a HOL training population to assess the degree of enrichment of the association signals in the gene regions defined by each GO term. We then extended the genomic best linear unbiased prediction model (GBLUP) to a genomic feature BLUP (GFBLUP) model, including an additional genomic effect quantifying the joint effect of a group of variants located in a genomic feature. The GBLUP model using a single random effect assumes that all genomic variants contribute to the genomic relationship equally, whereas GFBLUP attributes different weights to the individual genomic relationships in the prediction equation based on the estimated genomic parameters. Our results demonstrate that the immune-relevant GO terms were more associated with mastitis than milk production, and several biologically meaningful GO terms improved the prediction accuracy with GFBLUP for the four traits, as compared with GBLUP. The improvement of the genomic prediction between breeds (the average increase across the four traits was 0.161) was more apparent than that it was within the HOL (the average increase across the four traits was 0.020). Conclusions: Our genomic feature modelling approaches provide a framework to simultaneously explore the genetic architecture and genomic prediction of complex traits by taking advantage of independent biological knowledge. [ABSTRACT FROM AUTHOR]

Background: Genotyping by sequencing (GBS) is a robust method to genotype markers. Many factors can influence the genotyping quality. One is that heterozygous genotypes could be wrongly genotyped as homozygotes, dependent on the genotyping depths. In this study, a method correcting this type of genotyping error was demonstrated. The efficiency of this correction method and its effect on genomic prediction were assessed using simulated data of livestock populations. Results: Chip array (Chip) and four depths of GBS data was simulated. After quality control (call rate ≥ 0.8 and MAF ≥ 0.01), the remaining number of Chip and GBS SNPs were both approximately 7,000, averaged over 10 replicates. GBS genotypes were corrected with the proposed method. The reliability of genomic prediction was calculated using GBS, corrected GBS (GBSc), true genotypes for the GBS loci (GBSr) and Chip data. The results showed that GBSc had higher rates of correct genotype calls and higher correlations with true genotypes than GBS. For genomic prediction, using Chip data resulted in the highest reliability. As the depth increased to 10, the prediction reliabilities using GBS and GBSc data approached those using true GBS data. The reliabilities of genomic prediction using GBSc data were 0.604, 0.672, 0.684 and 0.704 after genomic correction, with the improved values of 0.013, 0.009, 0.006 and 0.001 at depth = 2, 4, 5 and 10, respectively. Conclusions: The current study showed that a correction method for GBS data increased the genotype accuracies and, consequently, improved genomic predictions. These results suggest that a correction of GBS genotype is necessary, especially for the GBS data with low depths. [ABSTRACT FROM AUTHOR]