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Genomic prediction (GP) is the procedure whereby the genetic merits of untested candidates are predicted using genome wide marker information. Although numerous examples of GP exist in plants and animals, applications to polyploid organisms are still scarce, partly due to limited genome resources and the complexity of this system. Deep learning (DL) techniques comprise a heterogeneous collection of machine learning algorithms that have excelled at many prediction tasks. A potential advantage of DL for GP over standard linear model methods is that DL can potentially take into account all genetic interactions, including dominance and epistasis, which are expected to be of special relevance in most polyploids. In this study, we evaluated the predictive accuracy of linear and DL techniques in two important small fruits or berries: strawberry and blueberry. The two datasets contained a total of 1,358 allopolyploid strawberry (2n=8x=112) and 1,802 autopolyploid blueberry (2n=4x=48) individuals, genotyped for 9,908 and 73,045 single nucleotide polymorphism (SNP) markers, respectively, and phenotyped for five agronomic traits each. DL depends on numerous parameters that influence performance and optimizing hyperparameter values can be a critical step. Here we show that interactions between hyperparameter combinations should be expected and that the number of convolutional filters and regularization in the first layers can have an important effect on model performance. In terms of genomic prediction, we did not find an advantage of DL over linear model methods, except when the epistasis component was important. Linear Bayesian models were better than convolutional neural networks for the full additive architecture, whereas the opposite was observed under strong epistasis. However, by using a parameterization capable of taking into account these non-linear effects, Bayesian linear models can match or exceed the predictive accuracy of DL. A semiautomatic implementation of the DL pipeline is available at https://github.com/lauzingaretti/deepGP/.
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http://dx.doi.org/10.3389/fpls.2020.00025 | DOI Listing |
Diagn Pathol
September 2025
Department of Gastrointestinal Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China.
Background: Gastric cancer is one of the most common cancers worldwide, with its prognosis influenced by factors such as tumor clinical stage, histological type, and the patient's overall health. Recent studies highlight the critical role of lymphatic endothelial cells (LECs) in the tumor microenvironment. Perturbations in LEC function in gastric cancer, marked by aberrant activation or damage, disrupt lymphatic fluid dynamics and impede immune cell infiltration, thereby modulating tumor progression and patient prognosis.
View Article and Find Full Text PDFTheor Appl Genet
September 2025
State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, 100081, China.
Hybrid breeding based on male sterility requires the removal of male parents, which is time- and labor-intensive; however, the use of female sterile male parent can solve this problem. In the offspring of distant hybridization between Brassica oleracea and Brassica napus, we obtained a mutant, 5GH12-279, which not only fails to generate gynoecium (thereby causing female sterility) but also has serrated leaves that could be used as a phenotypic marker in seedling screening. Genetic analysis revealed that this trait was controlled by a single dominant gene.
View Article and Find Full Text PDFNat Metab
September 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Young-onset monogenic disorders often show variable penetrance, yet the underlying causes remain poorly understood. Uncovering these influences could reveal new biological mechanisms and enhance risk prediction for monogenic diseases. Here we show that polygenic background substantially shapes the clinical presentation of maturity-onset diabetes of the young (MODY), a common monogenic form of diabetes that typically presents in adolescence or early adulthood.
View Article and Find Full Text PDFNat Commun
September 2025
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, 90033, California, USA.
Genes Immun
September 2025
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
In coeliac disease (CeD), the epithelial lining (EL) of the small intestine is severely damaged by a complex auto-inflammatory response, leading intraepithelial lymphocytes to attack epithelial cells. To understand the intestinal changes and genetic regulation in CeD, we investigated the heterogeneity in the transcriptomic profile of the duodenal EL using RNA-seq and eQTL analysis on predicted cell types. The study included duodenal biopsies from 82 patients, grouped into controls, gluten-free diet treated CeD and untreated CeD.
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