A computationally efficient method for approximating reliabilities in large-scale single-step genomic prediction.

BACKGROUND: In this study, computationally efficient methods to approximate the reliabilities of genomic estimated breeding values (GEBV) in a single-step genomic prediction model including a residual polygenic (RPG) effect are described. In order to calculate the reliabilities of the genotyped animals, a single nucleotide polymorphism best linear unbiased prediction (SNPBLUP) or a genomic BLUP (GBLUP), was used, where two alternatives to account for the RPG effect were tested. In the direct approach, the genomic model included the RPG effect, while in the blended method, it did not but an index was used to weight the genomic and pedigree-based BLUP (PBLUP) reliabilities. In order to calculate the single-step GBLUP reliabilities for the breeding values for the non-genotyped animals, a simplified weighted-PBLUP model that included a general mean and additive genetic effects with weights accounting for the non-genomic and genomic information was used. We compared five schemes for the weights. Two datasets, i.e., a small (Data 1) one and a large (Data 2) one were used. RESULTS: For the genotyped animals in Data 1, correlations between approximate reliabilities using the blended method and exact reliabilities ranged from 0.993 to 0.996 across three lactations. The slopes observed by regressing the reliabilities of GEBV from the exact method on those from the blended method were 1.0 for all three lactations. For Data 2, the correlations and slopes ranged, respectively, from 0.980 to 0.986 and from 0.91 to 0.96, and for the non-genotyped animals in Data 1, they ranged, respectively, from 0.987 to 0.994 and from 0.987 to 1, which indicate that the approximations were in line with the exact results. The best approach achieved correlations of 0.992 to 0.994 across lactations. CONCLUSIONS: Our results demonstrate that the approximated reliabilities calculated using our proposed approach are in good agreement with the exact reliabilities. The blended method for the genotyped animals is computationally more feasible than the direct method when RPG effects are included, particularly for large-scale datasets. The approach can serve as an effective strategy to estimate the reliabilities of GEBV in large-scale single-step 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 29 MF which was expanded to 148 MF 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 Γ 148 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.

Genome-wide association study for frozen-thawed sperm motility in stallions across various horse breeds.

OBJECTIVE: The semen quality of stallions including sperm motility is an important target of selection as it has a high level of individual variability. However, effects of the molecular architecture of the genome on the mechanisms of sperm formation and their preservation after thawing have been poorly investigated. Here, we conducted a genome-wide association study (GWAS) for the sperm motility of cryopreserved semen in stallions of various breeds. METHODS: Semen samples were collected from the stallions of 23 horse breeds. The following semen characteristics were examined: progressive motility (PM), progressive motility after freezing (FPM), and the difference between PM and FPM. The respective DNA samples from these stallions were genotyped using Axiom Equine Genotyping Array. RESULTS: We performed a GWAS search for single nucleotide polymorphism (SNP) markers and potential genes related to motility properties of frozen-thawed semen in the stallions of various breeds. As a result of the GWAS analysis, two SNP markers, rs1141327473 and rs1149048772, were identified that were associated with preservation of the frozen-thawed stallion sperm motility, the relevant putative candidate genes being NME/NM23 family member 8 (NME8), olfactory receptor family 2 subfamily AP member 1 (OR2AP1), and olfactory receptor family 6 subfamily C member 4 (OR6C4). Potential implications of effects of these genes on sperm motility are herein discussed. CONCLUSION: The GWAS results enabled us to localize novel SNPs and candidate genes for sperm motility in stallions. Implications of the study for horse breeding and genetics are a better understanding of genomic regions and candidate genes underlying stallion sperm quality, and improvement in horse reproduction and breeding techniques. The identified markers and genes for sperm cryotolerance and the respective genomic regions are promising candidates for further studying the biological processes in the formation and function of the stallion reproductive system.

Single-step genomic evaluation of Russian dairy cattle using internal and external information.

Genomic data are widely used in predicting the breeding values of dairy cattle. The accuracy of genomic prediction depends on the size of the reference population and how related the candidate animals are to it. For populations with limited numbers of progeny-tested bulls, the reference populations must include cows and data from external populations. The aim of this study was to implement state-of-the-art single-step genomic evaluations for milk and fat yield in Holstein and Russian Black & White cattle in the Leningrad region (LR, Russia), using only a limited number of genotyped animals. We complemented internal information with external pseudo-phenotypic and genotypic data of bulls from the neighbouring Danish, Finnish and Swedish Holstein (DFS) population. Three data scenarios were used to perform single-step GBLUP predictions in the LR dairy cattle population. The first scenario was based on the original LR reference population, which constituted 1,080 genotyped cows and 427 genotyped bulls. In the second scenario, the genotypes of 414 bulls related to the LR from the DFS population were added to the reference population. In the third scenario, LR data were further augmented with pseudo-phenotypic data from the DFS population. The inclusion of foreign information increased the validation reliability of the milk yield by up to 30%. Suboptimal data recording practices hindered the improvement of fat yield. We confirmed that the single-step model is suitable for populations with a low number of genotyped animals, especially when external information is integrated into the evaluations. Genomic prediction in populations with a low number of progeny-tested bulls can be based on data from genotyped cows and on the inclusion of genotypes and pseudo-phenotypes from the external population. This approach increased the validation reliability of the implemented single-step model in the milk yield, but shortcomings in the LR data recording scheme prevented improvements in fat yield.

Genetic Variability in Local and Imported Germplasm Chicken Populations as Revealed by Analyzing Runs of Homozygosity.

Preserving breed uniqueness and purity is vitally important in developing conservation/breeding programs for a germplasm collection of rare and endangered chicken breeds. The present study was aimed at analyzing SNP genetic variability of 21 small local and imported purebred and F1 crossbred populations and identifying crossbreeding events via whole-genome evaluation of runs of homozygosity (ROH). The admixture models more efficiently reflected population structure, pinpointing crossbreeding events in the presence of ancestral populations but not in their absence. Multidimensional scaling and FST-based analyses did not discriminate properly between purebred populations and F1 crossbreds, especially when comparing related breeds. When applying the ROH-based approach, more and longer ROHs were revealed in purebred individuals/populations, suggesting this as an effective implement in genome-wide analysis of germplasm breed purity.

Genome-wide association studies targeting the yield of extraembryonic fluid and production traits in Russian White chickens.

BACKGROUND: The Russian White is a gene pool breed, registered in 1953 after crossing White Leghorns with local populations and, for 50 years, selected for cold tolerance and high egg production (EL). The breed has great potential in meeting demands of local food producers, commercial farmers and biotechnology sector of specific pathogen-free (SPF) eggs, the former valuing the breed for its egg weight (EW), EL, age at first egg (AFE), body weight (BW), and the latter for its yield of extraembryonic fluid (YEF) in 12.5-day embryos, ratio of extraembryonic fluid to egg weight, and embryo mass. Moreover, its cold tolerance has been presumably associated with day-old chick down colour (DOCDC) - white rather than yellow, the genetic basis of these traits being however poorly understood. RESULTS: We undertook genome-wide association studies (GWASs) for eight performance traits using single nucleotide polymorphism (SNP) genotyping of 146 birds and an Illumina 60KBeadChip. Several suggestive associations (p < 5.16*10- 5) were found for YEF, AFE, BW and EW. Moreover, on chromosome 2, an association with the white DOCDC was found where there is an linkage disequilibrium block of SNPs including genes that are responsible not for colour, but for immune resistance. CONCLUSIONS: The obtained GWAS data can be used to explore the genetics of immunity and carry out selection for increasing YEF for SPF eggs production.