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Pappas, F.

Publications and source records attributed to Pappas, F..

2 recordsLinked to original sources

Two-tower models for genomic prediction of reproductive outcomes and sex-specific fertility liabilities: simulation insights

Many biological characteristics arise by interactions between more than one biological organism or unit. Fertilization success in sexually reproducing species represents such an extended phenotype where both mates are required to be fertile for a successful outcome. Consequently, predictive models should account for the joint nature of reproductive performance while offering interpretable estimates for individual mate contributions. Recent advances in genomics and machine learning (ML) provide standardized, high-dimensional genetic information on one hand and computational tools capable of modeling complex biological systems on the other. Here, we construct and evaluate two-tower (TT) machine learning architectures for genomic prediction of binary reproductive outcomes and recovery of sex-specific fertility liabilities. Simulated datasets, generated under a range of genetic architectures, were utilized to compare multilayer perceptron (TT-MLP), convolutional neural network (TT-CNN), and L1-regularized linear (TT-LASSO) two-tower models. Simulation scenarios varied sex-specific heritabilities, genetic correlations, infertility prevalence, mating structure, and sex-specific infertility rates. Models were evaluated with regard to their ability to predict reproductive success at pair level and also recover true underlying genetic values for male and female fertility. Prediction accuracy increased with the underlying heritable component as expected, while sex-specific tower-scores successfully recovered latent fertility liabilities despite models being trained only on observed joint outcomes. TT-LASSO achieved the highest overall classification performance, whereas TT-MLP provided more balanced and consistent recovery of sex-specific genetic values across scenarios. An additional simulation, incorporating genotype-dependent mate compatibility demonstrated advantages of fully-connected neural networks for capturing non-additive interactions. These results indicate that two-tower frameworks provide a powerful approach for modeling reproductive traits, enabling simultaneous prediction of aggregate reproductive outcomes and sex-specific fertility liabilities from genotypic information.

genetics↗

Genetic parameters and sex-specific architecture of observed and latent fertility phenotypes in a closed breeding nucleus of an Arctic salmonid

Successful reproduction is a key factor for efficient breeding schemes and sustainable animal farming. Aquaculture breeding programs rely heavily on small fractions of selected breeders to yield large production stocks, given the high fecundity typically observed in these species. In Sweden, Arctic charr (Salvelinus alpinus) is a salmonid with notable commercial potential, with a selective breeding program operating for ten generations under a growth-rate focused breeding goal. Despite significant gains, the nucleus faces challenges with low and fluctuating fertility impeding expansion efforts. In this study, we estimate genetic parameters for charr milt quality phenotypes measured with specialized cytometry and Computer-Assisted Sperm Analysis (CASA). At the same time, we assess the sex-specific architecture governing egg count and sperm concentration along body size. Finally, we propose a novel analytical framework for the analysis of realized fertilization success rates by considering a multiplicative system of latent maternal and paternal contributions. Low to moderate heritability estimates and genetic correlations were obtained from multi-trait modelling for traits reflecting sperm quality along with high estimates for fork length. Genetic correlations among sperm kinematic parameters appeared strong, while the same traits showed weak positive and weak negative correlations with sperm concentration and fork length, respectively. Furthermore, a negative genetic correlation between sperm concentration and both male body size and egg count suggests a complex interplay of a possible trade-off and sexual antagonism. Our latent fertility analytical approach returned low to moderate heritability estimates depending on the modelling configuration. Overall, our study demonstrated the complexity characterizing the heritable portions of reproductive traits in Arctic charr and tested alternative tools that have the potential for integration into selective breeding programs.

genetics↗