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Bayesian methods, such as BayesR, for predicting the genetic value or risk of individuals from their genotypes, such as Single Nucleotide Polymorphisms (SNP), are often implemented using a Markov Chain Monte Carlo (MCMC) process. However, the generation of Markov chains is computationally slow. We introduce a form of blocked Gibbs sampling for estimating SNP effects from Markov chains that greatly reduces computational time by sampling each SNP effect iteratively n-times from conditional block posteriors. Subsequent iteration over all blocks m-times produces chains of length m × n. We use this strategy to solve large-scale genomic prediction and fine-mapping problems using the Bayesian MCMC mixed-effects genetic model, BayesR3. We validate the method using simulated data, followed by analysis of empirical dairy cattle data using high dimension milk mid infra-red spectra data as an example of "omics" data and show its use to increase the precision of mapping variants affecting milk, fat, and protein yields relative to a univariate analysis of milk, fat, and protein. BayesR3 samples the polymorphisms affecting complex traits at reduced computational cost to predict the genetic value, breeding value, or individual risk of genotypes. [ABSTRACT FROM AUTHOR]

Key message: Genomic selection maximizes genetic gain by recycling parents to germplasm pool earlier and preserves genetic diversity by restricting the number of fixed alleles and the relationship in pulse breeding programs. Using a stochastic computer simulation, we investigated the benefit of optimization strategies in the context of genomic selection (GS) for pulse breeding programs. We simulated GS for moderately complex to highly complex traits such as disease resistance, grain weight and grain yield in multiple environments with a high level of genotype-by-environment interaction for grain yield. GS led to higher genetic gain per unit of time and higher genetic diversity loss than phenotypic selection by shortening the breeding cycle time. The genetic gain obtained from selecting the segregating parents early in the breeding cycle (at F1 or F2 stages) was substantially higher than selecting at later stages even though prediction accuracy was moderate. Increasing the number of F1 intercross (F1i) families and keeping the total number of progeny of F1i families constant, we observed a decrease in genetic gain and increase in genetic diversity, whereas increasing the number of progeny per F1i family while keeping a constant number of F1i families increased the rate of genetic gain and had higher genetic diversity loss per unit of time. Adding 50 F2 family phenotypes to the training population increased the accuracy of genomic breeding values (GEBVs) and genetic gain per year and decreased the rate of genetic diversity loss. Genetic diversity could be preserved by applying a strategy that restricted both the percentage of alleles fixed and the average relationship of the group of selected parents to preserve long-term genetic improvement in the pulse breeding program. [ABSTRACT FROM AUTHOR]

Maternal diversity based on a sub-region of mitochondrial genome or variants were commonly used to understand past demographic events in livestock. Additionally, there is growing evidence of direct association of mitochondrial genetic variants with a range of phenotypes. Therefore, this study used complete bovine mitogenomes from a large sequence database to explore the full spectrum of maternal diversity. Mitogenome diversity was evaluated among 1883 animals representing 156 globally important cattle breeds. Overall, the mitogenomes were diverse: presenting 11 major haplogroups, expanding to 1309 unique haplotypes, with nucleotide diversity 0.011 and haplotype diversity 0.999. A small proportion of African taurine (3.5%) and indicine (1.3%) haplogroups were found among the European taurine breeds and composites. The haplogrouping was largely consistent with the population structure derived from alternate clustering methods (e.g. PCA and hierarchical clustering). Further, we present evidence confirming a new indicine subgroup (I1a, 64 animals) mainly consisting of breeds originating from China and characterised by two private mutations within the I1 haplogroup. The total genetic variation was attributed mainly to within-breed variance (96.9%). The accuracy of the imputation of missing genotypes was high (99.8%) except for the relatively rare heteroplasmic genotypes, suggesting the potential for trait association studies within a breed. [ABSTRACT FROM AUTHOR]

Genome-wide association studies were conducted using a globally diverse safflower (Carthamus tinctorius L.) Genebank collection for grain yield (YP), days to flowering (DF), plant height (PH), 500 seed weight (SW), seed oil content (OL), and crude protein content (PR) in four environments (sites) that differed in water availability. Phenotypic variation was observed for all traits. YP exhibited low overall genetic correlations (rGoverall) across sites, while SW and OL had high rGoverall and high pairwise genetic correlations (rGij) across all pairwise sites. In total, 92 marker-trait associations (MTAs) were identified using three methods, single locus genome-wide association studies (GWAS) using a mixed linear model (MLM), the Bayesian multi-locus method (BayesR), and meta-GWAS. MTAs with large effects across all sites were detected for OL, SW, and PR, and MTAs specific for the different water stress sites were identified for all traits. Five MTAs were associated with multiple traits; 4 of 5 MTAs were variously associated with the three traits of SW, OL, and PR. This study provided insights into the phenotypic variability and genetic architecture of important safflower agronomic traits under different environments. [ABSTRACT FROM AUTHOR]

Key message: Genomic selection enabled accurate prediction for the concentration of 13 nutritional element traits in wheat. Wheat biofortification is one of the most sustainable strategies to alleviate mineral deficiency in human diets. Here, we investigated the potential of genomic selection using BayesR and Bayesian ridge regression (BRR) models to predict grain yield (YLD) and the concentration of 13 nutritional elements in grains (B, Ca, Co, Cu, Fe, K, Mg, Mn, Mo, Na, Ni, P and Zn) using a population of 1470 spring wheat lines. The lines were grown in replicated field trials with two times of sowing (TOS) at 3 locations (Narrabri-NSW, all lines; Merredin-WA and Horsham-VIC, 200 core lines). Narrow-sense heritability across environments (locations/TOS) ranged from 0.09 to 0.45. Co, K, Na and Ca showed low to negative genetic correlations with other traits including YLD, while the remaining traits were negatively correlated with YLD. When all environments were included in the reference population, medium to high prediction accuracy was observed for the different traits across environments. BayesR had higher average prediction accuracy for mineral concentrations (r = 0.55) compared to BRR (r = 0.48) across all traits and environments but both methods had comparable accuracies for YLD. We also investigated the utility of one or two locations (reference locations) to predict the remaining location(s), as well as the ability of one TOS to predict the other. Under these scenarios, BayesR and BRR showed comparable performance but with lower prediction accuracy compared to the scenario of predicting reference environments for new lines. Our study demonstrates the potential of genomic selection for enriching wheat grain with nutritional elements in biofortification breeding. [ABSTRACT FROM AUTHOR]

Key message: Several stable QTL were detected using metaGWAS analysis for different agronomic and quality traits under 26 normal and heat stressed environments. Heat stress, exacerbated by global warming, has a negative influence on wheat production worldwide and climate resilient cultivars can help mitigate these impacts. Selection decisions should therefore depend on multi-environment experiments representing a range of temperatures at critical stages of development. Here, we applied a meta-genome wide association analysis (metaGWAS) approach to detect stable QTL with significant effects across multiple environments. The metaGWAS was applied to 11 traits scored in 26 trials that were sown at optimal or late times of sowing (TOS1 and TOS2, respectively) at five locations. A total of 2571 unique wheat genotypes (13,959 genotypes across all environments) were included and the analysis conducted on TOS1, TOS2 and both times of sowing combined (TOS1&2). The germplasm was genotyped using a 90 k Infinium chip and imputed to exome sequence level, resulting in 341,195 single nucleotide polymorphisms (SNPs). The average accuracy across all imputed SNPs was high (92.4%). The three metaGWAS analyses revealed 107 QTL for the 11 traits, of which 16 were detected in all three analyses and 23 were detected in TOS1&2 only. The remaining QTL were detected in either TOS1 or TOS2 with or without TOS1&2, reflecting the complex interactions between the environments and the detected QTL. Eight QTL were associated with grain yield and seven with multiple traits. The identified QTL provide an important resource for gene enrichment and fine mapping to further understand the mechanisms of gene × environment interaction under both heat stressed and unstressed conditions. [ABSTRACT FROM AUTHOR]

The difficulty in finding causative mutations has hampered their use in genomic prediction. Here, we present a methodology to fine-map potentially causal variants genome-wide by integrating the functional, evolutionary and pleiotropic information of variants using GWAS, variant clustering and Bayesian mixture models. Our analysis of 17 million sequence variants in 44,000+ Australian dairy cattle for 34 traits suggests, on average, one pleiotropic QTL existing in each 50 kb chromosome-segment. We selected a set of 80k variants representing potentially causal variants within each chromosome segment to develop a bovine XT-50K genotyping array. The custom array contains many pleiotropic variants with biological functions, including splicing QTLs and variants at conserved sites across 100 vertebrate species. This biology-informed custom array outperformed the standard array in predicting genetic value of multiple traits across populations in independent datasets of 90,000+ dairy cattle from the USA, Australia and New Zealand. Genomic prediction of phenotype may be improved by using DNA mutations with functional, evolutionary, and pleiotropic consequences. Here the authors describe a method for genome-wide fine-mapping of QTLs and develop a genotyping array for improved prediction of genetic values for cattle traits. [ABSTRACT FROM AUTHOR]

Due to the increase in the use of precision agriculture, field trials have increased in size to allow for genomic selection tool development by linking quantitative phenotypic traits to sequence variations in the DNA of various crops. Crop row detection is an important step to enable the development of an efficient downstream analysis pipeline for genomic selection. In this paper, an efficient crop row detection algorithm was proposed that detected crop rows in colour images without the use of templates and most other pre-information such as number of rows and spacing between rows. The method only requires input on field weed intensity. The algorithm was robust in challenging field trial conditions such as variable light, sudden shadows, poor illumination, presence of weeds and noise and irregular crop shape. The algorithm can be applied to crop images taken from the top and side views. The algorithm was tested on a public dataset with side view images of crop rows and on Genomic Sub-Selection dataset in which images were taken from the top view. Different analyses were performed to check the robustness of the algorithm and to the best of authors' knowledge, the Receiver Operating Characteristic graph has been applied for the first time in crop row detection algorithm testing. Lastly, comparing this algorithm with several state-of-the-art methods, it exhibited superior performance. [ABSTRACT FROM AUTHOR]

In genome-wide association studies (GWAS), variants showing consistent effect directions across populations are considered as true discoveries. We model this information in an Effect Direction MEta-analysis (EDME) to quantify pleiotropy using GWAS of 34 Cholesky-decorrelated traits in 44,000+ cattle with sequence variants. The effect-direction agreement between independent bull and cow datasets was used to quantify the false discovery rate by effect direction (FDRed) and the number of affected traits for prioritised variants. Variants with multi-trait p < 1e–6 affected 1∼22 traits with an average of 10 traits. EDME assigns pleiotropic variants to each trait which informs the biology behind complex traits. New pleiotropic loci are identified, including signals from the cattle FTO locus mirroring its bystander effects on human obesity. When validated in the 1000-Bull Genome database, the prioritized pleiotropic variants consistently predicted expected phenotypic differences between dairy and beef cattle. EDME provides robust approaches to control GWAS FDR and quantify pleiotropy. Xiang et al. developed an Effect Direction Meta-analysis (EDME) approach to identify true pleiotropy. They used Cholesky-transformation to decorrelate the traits and identified many pleiotropic variants that consistently predicted phenotypic differences in cattle. [ABSTRACT FROM AUTHOR]

Key message: A multi-environment genomic prediction model incorporating environmental covariates increased the prediction accuracy of wheat grain protein content. The advantage of the haplotype-based model was dependent upon the trait of interest. The inclusion of environment covariates (EC) in genomic prediction models has the potential to precisely model environmental effects and genotype-by-environment interactions. Together with EC, a haplotype-based genomic prediction approach, which is capable of accommodating the interaction between local epistasis and environment, may increase the prediction accuracy. The main objectives of our study were to evaluate the potential of EC to portray the relationship between environments and the relevance of local epistasis modelled by haplotype-based approaches in multi-environment prediction. The results showed that among five traits: grain yield (GY), plant height, protein content, screenings percentage (SP) and thousand kernel weight, protein content exhibited a 2.1% increase in prediction accuracy when EC was used to model the environmental relationship compared to treatment of the environment as a regular random effect without a variance–covariance structure. The approach used a Gaussian kernel to characterise the relationship among environments that displayed no advantage in contrast to the use of a genomic relationship matrix. The prediction accuracies of haplotype-based approaches for SP were consistently higher than the genotype-based model when the numbers of single-nucleotide polymorphisms (SNP) in a haplotype were from three to ten. In contrast, for GY, haplotype-based models outperformed genotype-based methods when two to four SNPs were used to construct the haplotype. [ABSTRACT FROM AUTHOR]

Key message: Exploitation of data from a ryegrass breeding program has enabled rapid development and implementation of genomic selection for sward-based biomass yield with a twofold-to-threefold increase in genetic gain.Abstract: Genomic selection, which uses genome-wide sequence polymorphism data and quantitative genetics techniques to predict plant performance, has large potential for the improvement in pasture plants. Major factors influencing the accuracy of genomic selection include the size of reference populations, trait heritability values and the genetic diversity of breeding populations. Global diversity of the important forage species perennial ryegrass is high and so would require a large reference population in order to achieve moderate accuracies of genomic selection. However, diversity of germplasm within a breeding program is likely to be lower. In addition, de novo construction and characterisation of reference populations are a logistically complex process. Consequently, historical phenotypic records for seasonal biomass yield and heading date over a 18-year period within a commercial perennial ryegrass breeding program have been accessed, and target populations have been characterised with a high-density transcriptome-based genotyping-by-sequencing assay. Ability to predict observed phenotypic performance in each successive year was assessed by using all synthetic populations from previous years as a reference population. Moderate and high accuracies were achieved for the two traits, respectively, consistent with broad-sense heritability values. The present study represents the first demonstration and validation of genomic selection for seasonal biomass yield within a diverse commercial breeding program across multiple years. These results, supported by previous simulation studies, demonstrate the ability to predict sward-based phenotypic performance early in the process of individual plant selection, so shortening the breeding cycle, increasing the rate of genetic gain and allowing rapid adoption in ryegrass improvement programs. [ABSTRACT FROM AUTHOR]

A conventional potato breeding strategy uses targeted outcrossing, followed by phenotypic recurrent selection over a series of generations to identify improved cultivars. This paper reviews recent research in Australia aimed at improving the efficiency of such breeding. To develop marker-assisted selection (MAS) for traits of interest, our initial targets were qualitative disease resistances for potato cyst nematode (Globodera rostochiensis Ro1), Potato virus Y and Potato virus X. We undertook a cost analysis comparison between MAS and conventional screening, confirming that MAS would be cost-effective within a breeding programme. Then, as the majority of target traits are quantitative in nature, we also looked at methods to address these traits, including progeny testing and a quantitative genetic analysis technique to develop estimated breeding values (EBVs). We found the markers were useful for detecting the disease resistance characters, while the EBVs improved the analysis of the complex traits. Using a combination of MAS, EBVs and conventional screening methods, we then designed a breeding scheme for rapid selection of cultivars with multiple desirable traits, reducing the breeding cycle from over 10 to 4 years. We then explored the factors that will affect the application of genomic selection in potato and investigated strategies to incorporate genomic selection in potato breeding, as we found that it would accelerate genetic gain as the breeding cycle can be reduced to 1 year. Improvements in computational power are also flowing on to research capabilities such as sequencing, high-throughput phenotyping and data analysis, which will accelerate germplasm improvement and breeding. High-throughput phenotyping facilities are being developed that include automated glasshouse systems equipped with imaging sensors and in-field high-throughput phenotyping systems with sensors mounted on ground- or aerial-based vehicles. Using these technological improvements in phenotypic and genotypic analysis will reduce the breeding cycle in a cost-effective manner and means that we can now breed differently. [ABSTRACT FROM AUTHOR]

The 1000 bull genomes project supports the goal of accelerating the rates of genetic gain in domestic cattle while at the same time considering animal health and welfare by providing the annotated sequence variants and genotypes of key ancestor bulls. In the first phase of the 1000 bull genomes project, we sequenced the whole genomes of 234 cattle to an average of 8.3-fold coverage. This sequencing includes data for 129 individuals from the global Holstein-Friesian population, 43 individuals from the Fleckvieh breed and 15 individuals from the Jersey breed. We identified a total of 28.3 million variants, with an average of 1.44 heterozygous sites per kilobase for each individual. We demonstrate the use of this database in identifying a recessive mutation underlying embryonic death and a dominant mutation underlying lethal chrondrodysplasia. We also performed genome-wide association studies for milk production and curly coat, using imputed sequence variants, and identified variants associated with these traits in cattle. [ABSTRACT FROM AUTHOR]

Domestication and selective breeding has resulted in over 1000 extant cattle breeds. Many of these breeds do not excel in important traits but are adapted to local environments. These adaptations are a valuable source of genetic material for efforts to improve commercial breeds. As a step toward this goal we identified candidate regions to be under selection in genomes of nine Russian native cattle breeds adapted to survive in harsh climates. After comparing our data to other breeds of European and Asian origins we found known and novel candidate genes that could potentially be related to domestication, economically important traits and environmental adaptations in cattle. The Russian cattle breed genomes contained regions under putative selection with genes that may be related to adaptations to harsh environments (e.g., AQP5, RAD50, and RETREG1). We found genomic signatures of selective sweeps near key genes related to economically important traits, such as the milk production (e.g., DGAT1, ABCG2), growth (e.g., XKR4), and reproduction (e.g., CSF2). Our data point to candidate genes which should be included in future studies attempting to identify genes to improve the extant breeds and facilitate generation of commercial breeds that fit better into the environments of Russia and other countries with similar climates. [ABSTRACT FROM AUTHOR]