AIMC Topic: Quantitative Trait Loci
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Integrated phenotypic analysis, predictive modeling, and identification of novel trait-associated loci in a diverse Theobroma cacao collection.
BMC plant biology
Aug 9, 2025
BACKGROUND: Cacao (Theobroma cacao L.) breeding and improvement rely on understanding germplasm diversity and trait architecture. This study characterized a cacao collection (173 accessions) evaluated in Puerto Rico, examining phenotypic diversity, t...
Machine learning using genotype and gene-expression data identifies alterations of genes involved in infection susceptibility, antigen presentation and cytokine signalling as key contributors to JIA risk prediction.
RMD open
Jul 9, 2025
BACKGROUND: Previous genome-wide association studies (GWAS) have identified numerous genetic loci associated with juvenile idiopathic arthritis (JIA). However, the functional impact of these variants-particularly on tissue-specific gene expression-an...
Breeding perspectives on tackling trait genome-to-phenome (G2P) dimensionality using ensemble-based genomic prediction.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Jul 4, 2025
Trait Genome-to-Phenome (G2P) dimensionality and "breeding context" combine to influence the realised prediction skill of different whole genome prediction (WGP) methods. Theory and empirical evidence both suggest there is likely to be "No Free Lunch...
Identification of key genes as diagnostic biomarkers for IBD using bioinformatics and machine learning.
Journal of translational medicine
Jul 3, 2025
BACKGROUND: The pathogenesis of inflammatory bowel disease (IBD) involves complex molecular mechanisms, and achieving clinical remission remains challenging. This study aims to identify IBD-potential biomarkers, analyze their correlation with immune ...
Identification of MEG3 and MAPK3 as potential therapeutic targets for osteoarthritis through multiomics integration and machine learning.
Scientific reports
Jul 2, 2025
Knee osteoarthritis (KOA) is a prevalent degenerative joint disorder, yet its underlying molecular mechanisms remain puzzling. This study aimed to uncover the genes with a causal relationship to KOA using Mendelian randomization (MR), transcriptomic ...
Neur-Ally: a deep learning model for regulatory variant prediction based on genomic and epigenomic features in brain and its validation in certain neurological disorders.
NAR genomics and bioinformatics
Jun 13, 2025
Large-scale quantitative studies have identified significant genetic associations for various neurological disorders. Expression quantitative trait locus (eQTL) studies have shown the effect of single-nucleotide polymorphisms (SNPs) on the differenti...
Generative prediction of causal gene sets responsible for complex traits.
Proceedings of the National Academy of Sciences of the United States of America
Jun 12, 2025
The relationship between genotype and phenotype remains an outstanding question for organism-level traits because these traits are generally . The challenge arises from complex traits being determined by a combination of multiple genes (or loci), whi...
Transcripts and genomic intervals associated with variation in metabolite abundance in maize leaves under field conditions.
BMC genomics
May 1, 2025
Plants exhibit extensive environment-dependent intraspecific metabolic variation, which likely plays a role in determining variation in whole plant phenotypes. However, much of the work seeking to use natural variation to link genes and transcript's ...
Exploring new drug treatment targets for immune related bone diseases using a multi omics joint analysis strategy.
Scientific reports
Mar 27, 2025
In the field of treatment and prevention of immune-related bone diseases, significant challenges persist, necessitating the urgent exploration of new and effective treatment methods. However, most existing Mendelian randomization (MR) studies are con...
Improving genetic variant identification for quantitative traits using ensemble learning-based approaches.
BMC genomics
Mar 12, 2025
BACKGROUND: Genome-wide association studies (GWAS) are rapidly advancing due to the improved resolution and completeness provided by Telomere-to-Telomere (T2T) and pangenome assemblies. While recent advancements in GWAS methods have primarily focused...
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