Prediction Of Genomic Breeding Values Research Articles

Genomic regions, candidate genes, and pleiotropic variants associated with physiological and anatomical indicators of heat stress response in lactating sows

BackgroundHeat stress (HS) poses significant threats to the sustainability of livestock production. Genetically improving heat tolerance could enhance animal welfare and minimize production losses during HS events. Measuring phenotypic indicators of HS response and understanding their genetic background are crucial steps to optimize breeding schemes for improved climatic resilience. The identification of genomic regions and candidate genes influencing the traits of interest, including variants with pleiotropic effects, enables the refinement of genotyping panels used to perform genomic prediction of breeding values and contributes to unraveling the biological mechanisms influencing heat stress response. Therefore, the main objectives of this study were to identify genomic regions, candidate genes, and potential pleiotropic variants significantly associated with indicators of HS response in lactating sows using imputed whole-genome sequence (WGS) data. Phenotypic records for 18 traits and genomic information from 1,645 lactating sows were available for the study. The genotypes from the PorcineSNP50K panel containing 50,703 single nucleotide polymorphisms (SNPs) were imputed to WGS and after quality control, 1,622 animals and 7,065,922 SNPs were included in the analyses.ResultsA total of 1,388 unique SNPs located on sixteen chromosomes were found to be associated with 11 traits. Twenty gene ontology terms and 11 biological pathways were shown to be associated with variability in ear skin temperature, shoulder skin temperature, rump skin temperature, tail skin temperature, respiration rate, panting score, vaginal temperature automatically measured every 10 min, vaginal temperature measured at 0800 h, hair density score, body condition score, and ear area. Seven, five, six, two, seven, 15, and 14 genes with potential pleiotropic effects were identified for indicators of skin temperature, vaginal temperature, animal temperature, respiration rate, thermoregulatory traits, anatomical traits, and all traits, respectively.ConclusionsPhysiological and anatomical indicators of HS response in lactating sows are heritable but highly polygenic. The candidate genes found are associated with important gene ontology terms and biological pathways related to heat shock protein activities, immune response, and cellular oxidative stress. Many of the candidate genes with pleiotropic effects are involved in catalytic activities to reduce cell damage from oxidative stress and cellular mechanisms related to immune response.

Evaluation of non-additive genetic effects on carcass and meat quality traits in Korean Hanwoo cattle using genomic models

The traditional genetic evaluation methods generally consider additive genetic effects only and often ignore non-additive (dominance and epistasis) effects that may have contributed to genetic variation of complex traits of livestock species. The available dense single nucleotide polymorphisms (SNPs) panels offer to investigate the potential benefits of including non-additive genetic effects in the genomic evaluation models. Data from 16 971 genotyped (Illumina Bovine 50 K SNP chip) Korean Hanwoo cattle were used to estimate genetic variance components and prediction accuracy of genomic breeding values (GEBVs) for four carcass and meat quality traits: carcass weight (CWT), eye muscle area (EMA), back fat thickness (BFT) and marbling score (MS). Five different genetic models were evaluated through including additive, dominance and epistatic interactions (additive by additive, A × A; additive by dominance, A × D and dominance by dominance, D × D) successively in the models. The estimates of additive genetic variances and narrow sense heritabilities (ha2) were found similar across the evaluated models and traits except when additive interaction (A × A) was included. The dominance variance estimates relative to phenotypic variance ranged from 1.7–3.4% for CWT and MS traits, whereas, they were close to zero for EMA and BFT traits. The magnitude of A × A epistatic heritability (haa2) ranged between 14.8 and 27.7% in all traits. However, heritability estimates for A × D and D × D epistatic interactions (had2 and hdd2) were quite low compared to haa2 and were contributed only 0.0–9.7% of the total phenotypic variation. In general, broad sense heritability (hG2) estimates were almost twice (ranging between 0.54 and 0.68) the ha2 for all of the investigated traits. The inclusion of dominance effects did not improve the prediction accuracy of GEBV but improved 2.0–3.0% when epistatic effects were included in the model. More importantly, rank correlation revealed that partitioning of variance components considering dominance and epistatic effects in the model would enable to re-rank of top animals with better prediction of GEBV. The present result suggests that dominance and epistatic effects could be included in the genomic evaluation model for better estimates of variance components and more accurate prediction of GEBV for carcass and meat quality traits in Korean Hanwoo cattle.

Genomic prediction using machine learning: a comparison of the performance of regularized regression, ensemble, instance-based and deep learning methods on synthetic and empirical data

BackgroundThe accurate prediction of genomic breeding values is central to genomic selection in both plant and animal breeding studies. Genomic prediction involves the use of thousands of molecular markers spanning the entire genome and therefore requires methods able to efficiently handle high dimensional data. Not surprisingly, machine learning methods are becoming widely advocated for and used in genomic prediction studies. These methods encompass different groups of supervised and unsupervised learning methods. Although several studies have compared the predictive performances of individual methods, studies comparing the predictive performance of different groups of methods are rare. However, such studies are crucial for identifying (i) groups of methods with superior genomic predictive performance and assessing (ii) the merits and demerits of such groups of methods relative to each other and to the established classical methods. Here, we comparatively evaluate the genomic predictive performance and informally assess the computational cost of several groups of supervised machine learning methods, specifically, regularized regression methods, deep, ensemble and instance-based learning algorithms, using one simulated animal breeding dataset and three empirical maize breeding datasets obtained from a commercial breeding program.ResultsOur results show that the relative predictive performance and computational expense of the groups of machine learning methods depend upon both the data and target traits and that for classical regularized methods, increasing model complexity can incur huge computational costs but does not necessarily always improve predictive accuracy. Thus, despite their greater complexity and computational burden, neither the adaptive nor the group regularized methods clearly improved upon the results of their simple regularized counterparts. This rules out selection of one procedure among machine learning methods for routine use in genomic prediction. The results also show that, because of their competitive predictive performance, computational efficiency, simplicity and therefore relatively few tuning parameters, the classical linear mixed model and regularized regression methods are likely to remain strong contenders for genomic prediction.ConclusionsThe dependence of predictive performance and computational burden on target datasets and traits call for increasing investments in enhancing the computational efficiency of machine learning algorithms and computing resources.

Investigating the impact of non-additive genetic effects in the estimation of variance components and genomic predictions for heat tolerance and performance traits in crossbred and purebred pig populations

BackgroundNon-additive genetic effects are often ignored in livestock genetic evaluations. However, fitting them in the models could improve the accuracy of genomic breeding values. Furthermore, non-additive genetic effects contribute to heterosis, which could be optimized through mating designs. Traits related to fitness and adaptation, such as heat tolerance, tend to be more influenced by non-additive genetic effects. In this context, the primary objectives of this study were to estimate variance components and assess the predictive performance of genomic prediction of breeding values based on alternative models and two independent datasets, including performance records from a purebred pig population and heat tolerance indicators recorded in crossbred lactating sows.ResultsIncluding non-additive genetic effects when modelling performance traits in purebred pigs had no effect on the residual variance estimates for most of the traits, but lower additive genetic variances were observed, especially when additive-by-additive epistasis was included in the models. Furthermore, including non-additive genetic effects did not improve the prediction accuracy of genomic breeding values, but there was animal re-ranking across the models. For the heat tolerance indicators recorded in a crossbred population, most traits had small non-additive genetic variance with large standard error estimates. Nevertheless, panting score and hair density presented substantial additive-by-additive epistatic variance. Panting score had an epistatic variance estimate of 0.1379, which accounted for 82.22% of the total genetic variance. For hair density, the epistatic variance estimates ranged from 0.1745 to 0.1845, which represent 64.95–69.59% of the total genetic variance.ConclusionsIncluding non-additive genetic effects in the models did not improve the accuracy of genomic breeding values for performance traits in purebred pigs, but there was substantial re-ranking of selection candidates depending on the model fitted. Except for panting score and hair density, low non-additive genetic variance estimates were observed for heat tolerance indicators in crossbred pigs.

Across-country genetic and genomic analyses of foot score traits in American and Australian Angus cattle

BackgroundHoof structure and health are essential for the welfare and productivity of beef cattle. Therefore, we assessed the genetic and genomic background of foot score traits in American (US) and Australian (AU) Angus cattle and investigated the feasibility of performing genomic evaluations combining data for foot score traits recorded in US and AU Angus cattle. The traits evaluated were foot angle (FA) and claw set (CS). In total, 109,294 and ~ 1.12 million animals had phenotypic and genomic information, respectively. Four sets of analyses were performed: (1) genomic connectedness between US and AU Angus cattle populations and population structure, (2) estimation of genetic parameters, (3) single-step genomic prediction of breeding values, and (4) single-step genome-wide association studies for FA and CS.ResultsThere was no clear genetic differentiation between US and AU Angus populations. Similar heritability estimates (FA: 0.22–0.24 and CS: 0.22–0.27) and moderate-to-high genetic correlations between US and AU foot scores (FA: 0.61 and CS: 0.76) were obtained. A joint-genomic prediction using data from both populations outperformed within-country genomic evaluations. A genomic prediction model considering US and AU datasets as a single population performed similarly to the scenario accounting for genotype-by-environment interactions (i.e., multiple-trait model considering US and AU records as different traits), even though the genetic correlations between countries were lower than 0.80. Common significant genomic regions were observed between US and AU for FA and CS. Significant single nucleotide polymorphisms were identified on the Bos taurus (BTA) chromosomes BTA1, BTA5, BTA11, BTA13, BTA19, BTA20, and BTA23. The candidate genes identified were primarily from growth factor gene families, including FGF12 and GDF5, which were previously associated with bone structure and repair.ConclusionsThis study presents comprehensive population structure and genetic and genomic analyses of foot scores in US and AU Angus cattle populations, which are essential for optimizing the implementation of genomic selection for improved foot scores in Angus cattle breeding programs. We have also identified candidate genes associated with foot scores in the largest Angus cattle populations in the world and made recommendations for genomic evaluations for improved foot score traits in the US and AU.

Alternative measures to evaluate the accuracy and bias of genomic predictions with censored records

This study aimed to propose and compare metrics of accuracy and bias of genomic prediction of breeding values for traits with censored data. Genotypic and censored-phenotypic information were simulated for four traits with QTL heritability and polygenic heritability, respectively: C1: 0.07-0.07, C2: 0.07-0.00, C3: 0.27-0.27, and C4: 0.27-0.00. Genomic breeding values were predicted using the Mixed Cox and Truncated Normal models. The accuracy of the models was estimated based on the Pearson (PC), maximal (MC), and Pearson correlation for censored data (PCC) while the genomic bias was calculated via simple linear regression (SLR) and Tobit (TB). MC and PCC were statistically superior to PC for the trait C3 with 10 and 40% censored information, for 70% censorship, PCC yielded better results than MC and PC. For the other traits, the proposed measures were superior or statistically equal to the PC. The coefficients associated with the marginal effects (TB) presented estimates close to those obtained for the SLR method, while the coefficient related to the latent variable showed almost unchanged pattern with the increase in censorship in most cases. From a statistical point of view, the use of methodologies for censored data should be prioritized, even for low censoring percentages.

Potential of low-density genotype imputation for cost-efficient genomic selection for resistance to Flavobacterium columnare in rainbow trout (Oncorhynchus mykiss)

BackgroundFlavobacterium columnare is the pathogen agent of columnaris disease, a major emerging disease that affects rainbow trout aquaculture. Selective breeding using genomic selection has potential to achieve cumulative improvement of the host resistance. However, genomic selection is expensive partly because of the cost of genotyping large numbers of animals using high-density single nucleotide polymorphism (SNP) arrays. The objective of this study was to assess the efficiency of genomic selection for resistance to F. columnare using in silico low-density (LD) panels combined with imputation. After a natural outbreak of columnaris disease, 2874 challenged fish and 469 fish from the parental generation (n = 81 parents) were genotyped with 27,907 SNPs. The efficiency of genomic prediction using LD panels was assessed for 10 panels of different densities, which were created in silico using two sampling methods, random and equally spaced. All LD panels were also imputed to the full 28K HD panel using the parental generation as the reference population, and genomic predictions were re-evaluated. The potential of prioritizing SNPs that are associated with resistance to F. columnare was also tested for the six lower-density panels.ResultsThe accuracies of both imputation and genomic predictions were similar with random and equally-spaced sampling of SNPs. Using LD panels of at least 3000 SNPs or lower-density panels (as low as 300 SNPs) combined with imputation resulted in accuracies that were comparable to those of the 28K HD panel and were 11% higher than the pedigree-based predictions.ConclusionsCompared to using the commercial HD panel, LD panels combined with imputation may provide a more affordable approach to genomic prediction of breeding values, which supports a more widespread adoption of genomic selection in aquaculture breeding programmes.

Inbreeding Effects on the Performance and Genomic Prediction for Polysomic Tetraploid Potato Offspring Grown at High Nordic Latitudes.

Inbreeding depression (ID) is caused by increased homozygosity in the offspring after selfing. Although the self-compatible, highly heterozygous, tetrasomic polyploid potato (Solanum tuberosum L.) suffers from ID, some argue that the potential genetic gains from using inbred lines in a sexual propagation system of potato are too large to be ignored. The aim of this research was to assess the effects of inbreeding on potato offspring performance under a high latitude and the accuracy of the genomic prediction of breeding values (GEBVs) for further use in selection. Four inbred (S1) and two hybrid (F1) offspring and their parents (S0) were used in the experiment, with a field layout of an augmented design with the four S0 replicated in nine incomplete blocks comprising 100, four-plant plots at Umeå (63°49'30″ N 20°15'50″ E), Sweden. S0 was significantly (p < 0.01) better than both S1 and F1 offspring for tuber weight (total and according to five grading sizes), tuber shape and size uniformity, tuber eye depth and reducing sugars in the tuber flesh, while F1 was significantly (p < 0.01) better than S1 for all tuber weight and uniformity traits. Some F1 hybrid offspring (15-19%) had better total tuber yield than the best-performing parent. The GEBV accuracy ranged from -0.3928 to 0.4436. Overall, tuber shape uniformity had the highest GEBV accuracy, while tuber weight traits exhibited the lowest accuracy. The F1 full sib's GEBV accuracy was higher, on average, than that of S1. Genomic prediction may facilitate eliminating undesired inbred or hybrid offspring for further use in the genetic betterment of potato.

Single-Step Genomic Prediction of Superovulatory Response Traits in Japanese Black Donor Cows.

We assessed the performance of single-step genomic prediction of breeding values for superovulatory response traits in Japanese Black donor cows. A total of 25,332 records of the total number of embryos and oocytes (TNE) and the number of good embryos (NGE) per flush for 1874 Japanese Black donor cows were collected during 2008 and 2022. Genotype information on 36,426 autosomal single-nucleotide polymorphisms (SNPs) for 575 out of the 1,874 cows was used. Breeding values were predicted exploiting a two-trait repeatability animal model. Two genetic relationship matrices were used, one based on pedigree information (A matrix) and the other considering both pedigree and SNP marker genotype information (H matrix). Estimated heritabilities of TNE and NGE were 0.18 and 0.11, respectively, when using the H matrix, which were both slightly lower than when using the A matrix (0.26 for TNE and 0.16 for NGE). Estimated genetic correlations between the traits were 0.61 and 0.66 when using H and A matrices, respectively. When the variance components were the same in breeding value prediction, the mean reliability was greater when using the H matrix than when using the A matrix. This advantage seems more prominent for cows with low reliability when using the A matrix. The results imply that introducing single-step genomic prediction could boost the rate of genetic improvement of superovulatory response traits, but efforts should be made to maintain genetic diversity when performing selection.

Validation of single-step genomic BLUP random regression test-day models and SNP effects analysis on milk yield in French Saanen goats

The shape of the lactation curve is linked to an animal's health, feed requirements, and milk production throughout the year. Random regression models (RRM) are widely used for genetic evaluation of total milk production throughout the lactation and for milk yield persistency. Genomic information used with the single-step genomic BLUP method (ssGBLUP) substantially improves the accuracy of genomic prediction of breeding values in the main dairy cattle breeds. The aim of this study was to implement an RRM using ssGBLUP for milk yield in Saanen dairy goats in France. The data set consisted of 7,904,246 test-day records from 1,308,307 lactations of Saanen goats collected in France between 2000 and 2017. The performance of this type of evaluation was assessed by applying a validation step with data targeting candidate bucks. The model was compared with a nongenomic evaluation and a traditional evaluation that use cumulated performance throughout the lactation model (LM). The incorporation of genomic information increased correlations between daughter yield deviations (DYD) and estimated breeding values (EBV) obtained with a partial data set for candidate bucks. The LM and the RRM had similar correlation between DYD and EBV. However, the RRM reduced overestimation of EBV and improved the slope of the regression of DYD on EBV obtained at birth. This study shows that a genomic evaluation from a ssGBLUP RRM is possible in dairy goats in France and that RRM performance is comparable to a LM but with the additional benefit of a genomic evaluation of persistency. Variance of adjacent SNPs was studied with LM and RRM following the ssGBLUP. Both approaches converged on approximately the same regions explaining more than 1% of total variance. Regions associated with persistency were also found.

Impact of mixing between parallel year groups on genomic prediction in Atlantic salmon breeding programmes under random selection

A commercial breeding programme in Atlantic salmon utilises a four-year generation interval with four parallel breeding populations. In this study, we develop a computer simulation of a salmon breeding programme and explore the impact of gene flow between the parallel year groups on the accuracy of genomic prediction within and between breeding lines. We simulated four parallel lines for 10 discrete generations with random selection and different mixing rates between parallel year groups. The genetic distance between fish (as a measure of diversity) and the accuracy of estimated genomic breeding values were used as criteria of comparison. With no mixing the genetic distance increased between populations, the genetic variation within populations decreased and there was no increase in accuracy when combining data across populations. Even a low percentage of mixing decreased the genetic distance between populations and increased the genetic variation within populations. The higher the percentage of mixing the faster the lines became more similar. The accuracy of prediction climbed as the percentage of mixing increased. The increase in accuracy from the combined evaluation approach compared to the within evaluation approach was greater with an increased percentage of mixing. In conclusion, if there is no gene flow between populations the lines drift apart and there is no value in combining information across populations for genomic breeding value prediction. Only a low amount of mixing between lines brings the lines closer together and facilitates the use of information across lines to improve breeding value prediction. Optimising gene flow between lines should be an integral part of salmon breeding programme design.

Local breed proportions and local breed heterozygosity in genomic predictions for crossbred dairy cows.

For genomic prediction of crossbred animals, models that account for the breed origin of alleles (BOA) in marker genotypes can allow the effects of marker alleles to differ depending on their ancestral breed. Previous studies have shown that genomic estimated breeding values for crossbred cows can be calculated using the marker effects that are estimated in the contributing pure breeds and combined based on estimated BOA in the genotypes of the crossbred cows. In the presented study, we further exploit the BOA information for improving the prediction of genomic breeding values of crossbred dairy cows. We investigated 2 types of BOA-derived breed proportions: global breed proportions, defined as the proportion of marker alleles assigned to each breed across the whole genome; and local breed proportions (LBP), defined as the proportions of alleles on chromosome segments which were assigned to each breed. Further, we investigated 2 BOA-derived measures of heterozygosity for the prediction of total genetic value. First, global breed heterozygosity, defined as the proportion of marker loci that have alleles originating in 2 different breeds over the whole genome. Second, local breed heterozygosity (LBH), defined as proportions of marker loci on chromosome segments that had alleles originating in 2 different breeds. We estimated variance related to LBP and LBH on the remaining variation after accounting for prediction with solutions from the genomic evaluations of the pure breeds and validated alternative models for production traits in 5,214 Danish crossbred dairy cows. The estimated LBP variances were 0.9, 1.2, and 1.0% of phenotypic variance for milk, fat, and protein yield, respectively. We observed no clear LBH effect. Cross-validation showed that models with LBP effects had a numerically small but statistically significantly higher predictive ability than models only including global breed proportions. We observed similar improvement in accuracy by the model having an across crossbred residual additive genetic effect, accounting for the additive genetic variation that was not accounted for by the solutions from purebred. For genomic predictions of crossbred animals, estimated BOA can give useful information on breed proportions, both globally in the genome and locally in genome regions, and on breed heterozygosity.

SNP- and haplotype-based single-step genomic predictions for body weight, wool, and reproductive traits in North American Rambouillet sheep.

Rambouillet sheep are commonly raised in extensive grazing systems in the US, mainly for wool and meat production. Genomic evaluations in US sheep breeds, including Rambouillet, are still incipient. Therefore, we aimed to evaluate the feasibility of performing genomic prediction of breeding values for various traits in Rambouillet sheep based on single nucleotide polymorphisms (SNP) or haplotypes (fitted as pseudo-SNP) under a single-step GBLUP approach. A total of 28,834 records for birth weight (BWT), 23,306 for postweaning weight (PWT), 5,832 for yearling weight (YWT), 9,880 for yearling fibre diameter (YFD), 11,872 for yearling greasy fleece weight (YGFW), and 15,984 for number of lambs born (NLB) were used in this study. Seven hundred forty-one individuals were genotyped using a moderate (50 K; n=677) or high (600 K; n=64) density SNP panel, in which 32 K SNP in common between the two SNP panels (after genotypic quality control) were used for further analyses. Single-step genomic predictions using SNP (H-BLUP) or haplotypes (HAP-BLUP) from blocks with different linkage disequilibrium (LD) thresholds (0.15, 0.35, 0.50, 0.65, and 0.80) were evaluated. We also considered different blending parameters when constructing the genomic relationship matrix used to predict the genomic-enhanced estimated breeding values (GEBV), with alpha equal to 0.95 or 0.50. The GEBV were compared to the estimated breeding values (EBV) obtained from traditional pedigree-based evaluations (A-BLUP). The mean theoretical accuracy ranged from 0.499 (A-BLUP for PWT) to 0.795 (HAP-BLUP using haplotypes from blocks with LD threshold of 0.35 and alpha equal to 0.95 for YFD). The prediction accuracies ranged from 0.143 (A-BLUP for PWT) to 0.330 (A-BLUP for YGFW) while the prediction bias ranged from -0.104 (H-BLUP for PWT) to 0.087 (HAP-BLUP using haplotypes from blocks with LD threshold of 0.15 and alpha equal to 0.95 for YGFW). The GEBV dispersion ranged from 0.428 (A-BLUP for PWT) to 1.035 (A-BLUP for YGFW). Similar results were observed for H-BLUP or HAP-BLUP, independently of the LD threshold to create the haplotypes, alpha value, or trait analysed. Using genomic information (fitting individual SNP or haplotypes) provided similar or higher prediction and theoretical accuracies and reduced the dispersion of the GEBV for body weight, wool, and reproductive traits in Rambouillet sheep. However, there were no clear improvements in the prediction bias when compared to pedigree-based predictions. The next step will be to enlarge the training populations for this breed to increase the benefits of genomic predictions.

Single-step genomic BLUP with many metafounders.

Single-step genomic BLUP (ssGBLUP) model for routine genomic prediction of breeding values is developed intensively for many dairy cattle populations. Compatibility between the genomic (G) and the pedigree (A) relationship matrices remains an important challenge required in ssGBLUP. The compatibility relates to the amount of missing pedigree information. There are two prevailing approaches to account for the incomplete pedigree information: unknown parent groups (UPG) and metafounders (MF). unknown parent groups have been used routinely in pedigree-based evaluations to account for the differences in genetic level between groups of animals with missing parents. The MF approach is an extension of the UPG approach. The MF approach defines MF which are related pseudo-individuals. The MF approach needs a Γ matrix of the size number of MF to describe relationships between MF. The UPG and MF can be the same. However, the challenge in the MF approach is the estimation of Γ having many MF, typically needed in dairy cattle. In our study, we present an approach to fit the same amount of MF as UPG in ssGBLUP with Woodbury matrix identity (ssGTBLUP). We used 305-day milk, protein, and fat yield data from the DFS (Denmark, Finland, Sweden) Red Dairy cattle population. The pedigree had more than 6 million animals of which 207,475 were genotyped. We constructed the preliminary gamma matrix (Γ pre ) with 29MF which was expanded to 148MF by a covariance function (Γ 148). The quality of the extrapolation of the Γ pre matrix was studied by comparing average off-diagonal elements between breed groups. On average relationships among MF in were 1.8% higher than in Γ pre . The use of Γ 148 increased the correlation between the G and A matrices by 0.13 and 0.11 for the diagonal and off-diagonal elements, respectively. [G]EBV were predicted using the ssGTBLUP and Pedigree-BLUP models with the MF and UPG. The prediction reliabilities were slightly higher for the ssGTBLUP model using MF than UPG. The ssGBLUP MF model showed less overprediction compared to other models.

The prediction accuracies of linear-type traits in Czech Holstein cattle when using ssGBLUP or wssGBLUP.

The aim of this study was to assess the contribution of the weighted single-step genomic best linear unbiased prediction (wssGBLUP) method compared to the single-step genomic best linear unbiased prediction (ssGBLUP) method for genomic evaluation of 25 linear-type traits in the Czech Holstein cattle population. The nationwide database of linear-type traits with 6,99,681 records combined with deregressed proofs from Interbull (MACE method) was used as the input data. Genomic breeding values (GEBVs) were predicted based on these phenotypes using ssGBLUP and wssGBLUP methods using the BLUPF90 software. The bull validation test was employed which was based on comparing GEBVs of young bulls (N = 334) with no progeny in 2016. A minimum of 50 daughters with their own performance in 2020 was chosen to verify the contribution to the GEBV prediction, GEBV reliability, validation reliabilities (R2), and regression coefficients (b1). The results showed that the differences between the two methods were negligible. The low benefit of wssGBLUP may be due to the inclusion of a small number of SNPs; therefore, most predictions rely on polygenic relationships between animals. Nevertheless, the benefits of wssGBLUP analysis should be assessed with respect to specific population structures and given traits.

Random regression models using B-splines functions provide more accurate genomic breeding values for milk yield and lactation persistence in Murrah buffaloes.

There is a great worldwide demand for cheese made with buffalo milk, due to its flavour and nutritional properties. In this context, there is a need for increasing the efficiency of buffalo milk production (including lactation persistence), which can be achieved through genomic selection. The most used methods for the genetic evaluation of longitudinal data, such as milk-related traits, are based on random regression models (RRM). The choice of the best covariance functions and polynomial order for modelling the random effects is an important step to properly fit RRM. To our best knowledge, there are no studies evaluating the impact of the order and covariance function (Legendre polynomials-LEG and B-splines-BSP) used to fit RRM for genomic prediction of breeding values in dairy buffaloes. Therefore, the main objectives of this study were to estimate variance components and evaluate the performance of LEG and BSP functions of different orders on the predictive ability of genomic breeding values for the first three lactations of milk yield (MY1, MY2, and MY3) and lactation persistence (LP1, LP2, and LP3) of Brazilian Murrah. Twenty-two models for each lactation were contrasted based on goodness of fit, genetic parameter estimates, and predictive ability. Overall, the models of higher orders of LEG or BSP had a better performance based on the deviance information criterion (DIC). The daily heritability estimates ranged from 0.01 to 0.30 for MY1, 0.08 to 0.42 for MY2, and from 0.05 to 0.47 for MY3. For lactation persistence (LP), the heritability estimates ranged from 0.09 to 0.32 for LP1, from 0.15 to 0.33 for LP2, and from 0.06 to 0.32 for LP3. In general, the curves plotted for variance components and heritability estimates based on BSP models presented lower oscillation along the lactation trajectory. Similar predictive ability was observed among the models. Considering a balance between the complexity of the model, goodness of fit, and credibility of the results, RRM using quadratic B-splines functions based on four or five segments to model the systematic, additive genetic, and permanent environment curves provide better fit with no significant differences between genetic variances estimates, heritabilities, and predictive ability for the genomic evaluation of dairy buffaloes.

Genetic Characterization and Population Connectedness of North American and European Dairy Goats.

Genomic prediction of breeding values is routinely performed in several livestock breeding programs around the world, but the size of the training populations and the genetic structure of populations evaluated have, in many instances, limited the increase in the accuracy of genomic estimated breeding values. Combining phenotypic, pedigree, and genomic data from genetically related populations can be a feasible strategy to overcome this limitation. However, the success of across-population genetic evaluations depends on the pedigree connectedness and genetic relationship among individuals from different populations. In this context, this study aimed to evaluate the genetic connectedness and population structure of Alpine and Saanen dairy goats from four countries involved in the European project SMARTER (SMAll RuminanTs Breeding for Efficiency and Resilience), including Canada, France, Italy, and Switzerland. These analyses are paramount for assessing the potential feasibility of an across-country genomic evaluation in dairy goats. Approximately, 9,855 genotyped individuals (with 51% French genotyped animals) and 6,435,189 animals included in the pedigree files were available across all four populations. The pedigree analyses indicated that the exchange of breeding animals was mainly unilateral with flows from France to the other three countries. Italy has also imported breeding animals from Switzerland. Principal component analyses (PCAs), genetic admixture analysis, and consistency of the gametic phase revealed that French and Italian populations are more genetically related than the other dairy goat population pairs. Canadian dairy goats showed the largest within-breed heterogeneity and genetic differences with the European populations. The genetic diversity and population connectedness between the studied populations indicated that an international genomic evaluation may be more feasible, especially for French and Italian goats. Further studies will investigate the accuracy of genomic breeding values when combining the datasets from these four populations.

Rare and population-specific functional variation across pig lines

BackgroundIt is expected that functional, mainly missense and loss-of-function (LOF), and regulatory variants are responsible for most phenotypic differences between breeds and genetic lines of livestock species that have undergone diverse selection histories. However, there is still limited knowledge about the existing missense and LOF variation in commercial livestock populations, in particular regarding population-specific variation and how it can affect applications such as across-breed genomic prediction.MethodsWe re-sequenced the whole genome of 7848 individuals from nine commercial pig lines (average sequencing coverage: 4.1×) and imputed whole-genome genotypes for 440,610 pedigree-related individuals. The called variants were categorized according to predicted functional annotation (from LOF to intergenic) and prevalence level (number of lines in which the variant segregated; from private to widespread). Variants in each category were examined in terms of their distribution along the genome, alternative allele frequency, per-site Wright’s fixation index (FST), individual load, and association to production traits.ResultsOf the 46 million called variants, 28% were private (called in only one line) and 21% were widespread (called in all nine lines). Genomic regions with a low recombination rate were enriched with private variants. Low-prevalence variants (called in one or a few lines only) were enriched for lower allele frequencies, lower FST, and putatively functional and regulatory roles (including LOF and deleterious missense variants). On average, individuals carried fewer private deleterious missense alleles than expected compared to alleles with other predicted consequences. Only a small subset of the low-prevalence variants had intermediate allele frequencies and explained small fractions of phenotypic variance (up to 3.2%) of production traits. The significant low-prevalence variants had higher per-site FST than the non-significant ones. These associated low-prevalence variants were tagged by other more widespread variants in high linkage disequilibrium, including intergenic variants.ConclusionsMost low-prevalence variants have low minor allele frequencies and only a small subset of low-prevalence variants contributed detectable fractions of phenotypic variance of production traits. Accounting for low-prevalence variants is therefore unlikely to noticeably benefit across-breed analyses, such as the prediction of genomic breeding values in a population using reference populations of a different genetic background.

191 Improving Climatic Resilience in Pigs Through Physiological Genomics

Abstract Breeding programs have improved productive and reproductive efficiency in worldwide swine populations. However, greater performance is often accompanied by reduced climatic resilience due to greater metabolic heat production. Genomic selection is an effective tool for alleviating the negative effects of heat stress, but it requires traits that effectively capture the physiological, behavioral, and morphological mechanisms regulating the heat stress response. In this presentation we will first describe the genetic background of heat tolerance based on routinely recorded phenotypes (growth, carcass composition, and reproduction) and climatic variables obtained from public-weather-station databases. There are clear genotype-by-environment interactions across environmental conditions and the definition of the critical periods for quantifying the environmental gradient directly impacts the accuracy of genomic prediction of breeding values for heat tolerance. Secondly, we will describe the genetic background of various behavioral, physiological, and morphological indicators of heat stress in maternal line pigs, including automatically recorded vaginal temperature, skin temperature measured in different body locations and times of the day, respiration rate, panting score, body condition score, hair cortisol, hair density, and ear area. These traits are heritable and can be successfully included in genomic breeding programs. Furthermore, we will discuss the transgenerational effects of heat stress in maternal-line pigs, including an epigenomic analyses of in-utero heat stress that identified over 200 genomic regions that are differentially methylated. In summary, we will: 1) provide a comprehensive description of the environmental-gradient variables and critical periods fitted in genomic evaluations of heat tolerance; 2) describe the genetic background of various indicators of heat tolerance, including heritability, genetic correlations, candidate genes, differentially-methylated regions, and metabolic pathways associated with the significant genomic regions; 3) present the accuracies of genomic predictions for each indicator trait; and, 5) make recommendations for the implementation of genomic selection for improved heat tolerance in pigs. This research was supported by the Agriculture and Food Research Initiative (AFRI) Competitive Grants number 2020-67015-31575 and 2021-67015-34458 from the USDA National Institute of Food and Agriculture.

Genomic prediction of 10 metamorphic traits of captive-bred Japanese eels (Anguilla japonica) using the GRAS-Di genotyping method

The Japanese eel (Anguilla japonica) is one of the most important aquaculture fish species in Eastern Asia. A major bottleneck in the mass production of glass eels is the long larval period that they undergo in captivity. In the present study, 1689 glass eels, originating from a partly factorial cross (43 sires × 32 dams), were used to investigate the potential value of genomic selection for 10 traits related to the timing of metamorphosis and the body size at that time. Genotyping by random amplicon sequencing-direct (GRAS-Di®) sequencing was used to identify and genotype single nucleotide polymorphism (SNP) markers, which were used to assign parentage and as a basis for genomic selection. The genomic heritabilities of the 10 metamorphic traits obtained by genomic best linear unbiased prediction (GBLUP) models were moderate (range 0.21–0.38), and the standard errors were smaller than those determined by the pedigree-based best linear unbiased prediction (ABLUP) models. The genomic prediction of breeding values outperformed the pedigree-based prediction, resulting in a 3%–19% improvement in the prediction accuracy. The impact of reduced SNP densities on the predictive ability of GBLUP was tested using a linkage disequilibrium-based pruning and random thinning method to reduce 17,017 SNPs to 2117 SNPs. An SNP set of 8000 was considered to be sufficient to achieve predictive ability comparable to that obtained using higher SNP densities for both methods. The selective genotyping of the top individuals in the training population led to a severe reduction in the predictive ability compared with the random genotyping of the same number of samples. These results will be useful for decision-making in establishing best-practice breeding programs when applied to genomic selection for metamorphic traits for shortening the larval period and improving seed quality in Japanese eels.