Deep learning methods improve genomic prediction of wheat breeding.

In the field of plant breeding, various machine learning models have been developed and studied to evaluate the genomic prediction (GP) accuracy of unseen phenotypes. Deep learning has shown promise. However, most studies on deep learning in plant breeding have been limited to small datasets, and only a few have explored its application in moderate-sized datasets. In this study, we aimed to address this limitation by utilizing a moderately large dataset. We examined the performance of a deep learning (DL) model and compared it with the widely used and powerful best linear unbiased prediction (GBLUP) model. The goal was to assess the GP accuracy in the context of a five-fold cross-validation strategy and when predicting complete environments using the DL model. The results revealed the DL model outperformed the GBLUP model in terms of GP accuracy for two out of the five included traits in the five-fold cross-validation strategy, with similar results in the other traits. This indicates the superiority of the DL model in predicting these specific traits. Furthermore, when predicting complete environments using the leave-one-environment-out (LOEO) approach, the DL model demonstrated competitive performance. It is worth noting that the DL model employed in this study extends a previously proposed multi-modal DL model, which had been primarily applied to image data but with small datasets. By utilizing a moderately large dataset, we were able to evaluate the performance and potential of the DL model in a context with more information and challenging scenario in plant breeding.

Genomic Prediction of Resistance to Tan Spot, Spot Blotch and Septoria Nodorum Blotch in Synthetic Hexaploid Wheat.

Genomic prediction combines molecular and phenotypic data in a training population to predict the breeding values of individuals that have only been genotyped. The use of genomic information in breeding programs helps to increase the frequency of favorable alleles in the populations of interest. This study evaluated the performance of BLUP (Best Linear Unbiased Prediction) in predicting resistance to tan spot, spot blotch and Septoria nodorum blotch in synthetic hexaploid wheat. BLUP was implemented in single-trait and multi-trait models with three variations: (1) the pedigree relationship matrix (A-BLUP), (2) the genomic relationship matrix (G-BLUP), and (3) a combination of the two matrices (A+G BLUP). In all three diseases, the A-BLUP model had a lower performance, and the G-BLUP and A+G BLUP were statistically similar (p ≥ 0.05). The prediction accuracy with the single trait was statistically similar (p ≥ 0.05) to the multi-trait accuracy, possibly due to the low correlation of severity between the diseases.

SNP-Based Heritability of Osteochondrosis Dissecans in Hanoverian Warmblood Horses.

Before the genomics era, heritability estimates were performed using pedigree data. Data collection for pedigree analysis is time consuming and holds the risk of incorrect or incomplete data. With the availability of SNP-based arrays, heritability can now be estimated based on genotyping data. We used SNP array and 1.6 million imputed genotype data with different minor allele frequency restrictions to estimate heritabilities for osteochondrosis dissecans in the fetlock, hock and stifle joints of 446 Hanoverian warmblood horses. SNP-based heritabilities were estimated using a genomic restricted maximum likelihood (GREML) method and accounting for patterns of regional linkage disequilibrium in the equine genome. In addition, we employed GREML for family data to account for different degrees of relatedness in the study population. Our results indicate that we were able to capture a larger proportion of additive genetic variance compared to pedigree-based estimates in the same population of Hanoverian horses. Heritability estimates on the linear scale for fetlock-, hock- and stifle-osteochondrosis dissecans were 0.41-0.43, 0.62-0.63, and 0.23-0.25, respectively, with standard errors of 0.11-0.14. Accounting for linkage disequilibrium patterns had an upward effect on the imputed data and a downward impact on the SNP array genotype data. GREML for family data resulted in higher heritability estimates for fetlock-osteochondrosis dissecans and slightly higher estimates for hock-osteochondrosis dissecans, but had no effect on stifle-osteochondrosis dissecans. The largest and most consistent heritability estimates were obtained when we employed GREML for family data with genomic relationship matrices weighted through patterns of regional linkage disequilibrium. Estimation of SNP-based heritability should be recommended for traits that can only be phenotyped in smaller samples or are cost-effective.

Counting households containing same-sex couples: an inclusive approach.

Though societal acceptance of same-sex unions has grown, resulting in more inclusive government programs and policies and expanded legal protections, analysts remain uncertain about how to identify and enumerate same-sex households. Presently, the counts available of same-sex households in the United States oftentimes disagree. We show that the origins of these conflicting counts can be traced back to definitional and measurement issues in household surveys. In this study, we demonstrate how counts of same-sex households conflict, mislead, and undermine the goal of accurately representing the population of households with same-sex couples. By providing alternative approaches to counting household with same-sex couples we highlight the challenges in enumerating these households. We draw upon three federal household surveys to demonstrate the inconsistencies in the counts of same-sex households and to illustrate our methods. We argue that our proposed methods lead to more comprehensive and credible counts of households containing same-sex couples.

Controlling Coancestry and Thereby Future Inbreeding by Optimum-Contribution Selection Using Alternative Genomic-Relationship Matrices.

We tested the consequences of using alternative genomic relationship matrices to predict genomic breeding values (GEBVs) and control of coancestry in optimum contribution selection, where the relationship matrix used to calculate GEBVs was not necessarily the same as that used to control coancestry. A stochastic simulation study was carried out to investigate genetic gain and true genomic inbreeding in breeding schemes that applied genomic optimum contribution selection (GOCS) with different genomic relationship matrices. Three genomic-relationship matrices were used to predict the GEBVs based on three information sources: markers (G M), QTL (G Q ), and markers and QTL (G A). Strictly, G Q is not possible to implement in practice since we do not know the quantitative trait loci (QTL) positions, but more and more information is becoming available especially about the largest QTL. Two genomic-relationship matrices were used to control coancestry: G M and G A. Three genetic architectures were simulated: with 7702, 1000, and 500 QTLs together with 54,218 markers. Selection was for a single trait with heritability 0.2. All selection candidates were phenotyped and genotyped before selection. With 7702 QTL, there were no significant differences in rates of genetic gain at the same rate of true inbreeding using different genomic relationship matrices in GOCS. However, as the number of QTLs was reduced to 1000, prediction of GEBVs using a genomic relationship matrix constructed based on G Q and control of coancestry using G M realized 29.7% higher genetic gain than using G M for both prediction and control of coancestry. Forty-three percent of this increased rate of genetic gain was due to increased accuracies of GEBVs. These findings indicate that with large numbers of QTL, it is not critical what information, i.e., markers or QTL, is used to construct genomic-relationship matrices. However, it becomes critical with small numbers of QTL. This highlights the importance of using genomic-relationship matrices that focus on QTL regions for GEBV estimation when the number of QTL is small in GOCS. Relationships used to control coancestry are preferably based on marker data.

Genomic Prediction of Autotetraploids; Influence of Relationship Matrices, Allele Dosage, and Continuous Genotyping Calls in Phenotype Prediction.

Estimation of allele dosage, using genomic data, in autopolyploids is challenging and current methods often result in the misclassification of genotypes. Some progress has been made when using SNP arrays, but the major challenge is when using next generation sequencing data. Here we compare the use of read depth as continuous parameterization with ploidy parameterizations in the context of genomic selection (GS). Additionally, different sources of information to build relationship matrices were compared. A real breeding population of the autotetraploid species blueberry (Vaccinium corybosum), composed of 1,847 individuals was phenotyped for eight yield and fruit quality traits over two years. Continuous genotypic based models performed as well as the best models. This approach also reduces the computational time and avoids problems associated with misclassification of genotypic classes when assigning dosage in polyploid species. This approach could be very valuable for species with higher ploidy levels or for emerging crops where ploidy is not well understood. To our knowledge, this work constitutes the first study of genomic selection in blueberry. Accuracies are encouraging for application of GS for blueberry breeding. GS could reduce the time for cultivar release by three years, increasing the genetic gain per cycle by 86% on average when compared to phenotypic selection, and 32% when compared with pedigree-based selection. Finally, the genotypic and phenotypic data used in this study are made available for comparative analysis of dosage calling and genomic selection prediction models in the context of autopolyploids.

Genome variants associated with RNA splicing variations in bovine are extensively shared between tissues.

BACKGROUND: Mammalian phenotypes are shaped by numerous genome variants, many of which may regulate gene transcription or RNA splicing. To identify variants with regulatory functions in cattle, an important economic and model species, we used sequence variants to map a type of expression quantitative trait loci (expression QTLs) that are associated with variations in the RNA splicing, i.e., sQTLs. To further the understanding of regulatory variants, sQTLs were compare with other two types of expression QTLs, 1) variants associated with variations in gene expression, i.e., geQTLs and 2) variants associated with variations in exon expression, i.e., eeQTLs, in different tissues. RESULTS: Using whole genome and RNA sequence data from four tissues of over 200 cattle, sQTLs identified using exon inclusion ratios were verified by matching their effects on adjacent intron excision ratios. sQTLs contained the highest percentage of variants that are within the intronic region of genes and contained the lowest percentage of variants that are within intergenic regions, compared to eeQTLs and geQTLs. Many geQTLs and sQTLs are also detected as eeQTLs. Many expression QTLs, including sQTLs, were significant in all four tissues and had a similar effect in each tissue. To verify such expression QTL sharing between tissues, variants surrounding (±1 Mb) the exon or gene were used to build local genomic relationship matrices (LGRM) and estimated genetic correlations between tissues. For many exons, the splicing and expression level was determined by the same cis additive genetic variance in different tissues. Thus, an effective but simple-to-implement meta-analysis combining information from three tissues is introduced to increase power to detect and validate sQTLs. sQTLs and eeQTLs together were more enriched for variants associated with cattle complex traits, compared to geQTLs. Several putative causal mutations were identified, including an sQTL at Chr6:87392580 within the 5th exon of kappa casein (CSN3) associated with milk production traits. CONCLUSIONS: Using novel analytical approaches, we report the first identification of numerous bovine sQTLs which are extensively shared between multiple tissue types. The significant overlaps between bovine sQTLs and complex traits QTL highlight the contribution of regulatory mutations to phenotypic variations.

Unraveling additive from nonadditive effects using genomic relationship matrices.

The application of quantitative genetics in plant and animal breeding has largely focused on additive models, which may also capture dominance and epistatic effects. Partitioning genetic variance into its additive and nonadditive components using pedigree-based models (P-genomic best linear unbiased predictor) (P-BLUP) is difficult with most commonly available family structures. However, the availability of dense panels of molecular markers makes possible the use of additive- and dominance-realized genomic relationships for the estimation of variance components and the prediction of genetic values (G-BLUP). We evaluated height data from a multifamily population of the tree species Pinus taeda with a systematic series of models accounting for additive, dominance, and first-order epistatic interactions (additive by additive, dominance by dominance, and additive by dominance), using either pedigree- or marker-based information. We show that, compared with the pedigree, use of realized genomic relationships in marker-based models yields a substantially more precise separation of additive and nonadditive components of genetic variance. We conclude that the marker-based relationship matrices in a model including additive and nonadditive effects performed better, improving breeding value prediction. Moreover, our results suggest that, for tree height in this population, the additive and nonadditive components of genetic variance are similar in magnitude. This novel result improves our current understanding of the genetic control and architecture of a quantitative trait and should be considered when developing breeding strategies.