AIMC Topic: Genome-Wide Association Study

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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...
Humans Machine Learning Multifactorial Inheritance Genome-Wide Association Study Genotype Models, Genetic Quantitative Trait Loci Phenotype Gene Expression Profiling Transcriptome
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Detecting genetic interactions with visible neural networks.

Communications biology Jun 5, 2025
Non-linear interactions among single nucleotide polymorphisms (SNPs), genes, and pathways play an important role in human diseases, but identifying these interactions is a challenging task. Neural networks are state-of-the-art predictors in many doma...
Genome-Wide Association Study Polymorphism, Single Nucleotide Epistasis, Genetic Humans Neural Networks, Computer Inflammatory Bowel Diseases Case-Control Studies
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Epistasis regulates genetic control of cardiac hypertrophy.

Nature cardiovascular research Jun 5, 2025
Although genetic variant effects often interact nonadditively, strategies to uncover epistasis remain in their infancy. Here we develop low-signal signed iterative random forests to elucidate the complex genetic architecture of cardiac hypertrophy, u...
Genetic Predisposition to Disease Magnetic Resonance Imaging Receptor, IGF Type 1 Heart Failure Deep Learning Genome-Wide Association Study Gene Regulatory Networks Induced Pluripotent Stem Cells Connectin Ventricular Remodeling Myocytes, Cardiac Hypertrophy, Left Ventricular Epistasis, Genetic Humans Phenotype Female Aged Male Middle Aged
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Performance of deep-learning-based approaches to improve polygenic scores.

Nature communications Jun 2, 2025
Polygenic scores, which estimate an individual's genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonl...
Humans Neural Networks, Computer Phenotype Deep Learning Gene-Environment Interaction Multifactorial Inheritance Genome-Wide Association Study Models, Genetic Genetic Predisposition to Disease United Kingdom Polymorphism, Single Nucleotide Linear Models Linkage Disequilibrium
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Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.

Current osteoporosis reports May 24, 2025
PURPOSE OF REVIEW: Genome-wide association studies (GWAS) have significantly advanced osteoporosis research by identifying genetic loci associated with bone mineral density (BMD) and fracture risk. However, disparities persist due to the underreprese...
Low Density Lipoprotein Receptor-Related Protein-5 White People Gene-Environment Interaction Osteoporotic Fractures African People Genetic Predisposition to Disease Core Binding Factor Alpha 1 Subunit Asian People Humans Machine Learning Bone Density Osteoporosis Genome-Wide Association Study Genomics
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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 ...
Genome, Plant Genomics Phenotype Metabolome Gene Expression Regulation, Plant Plant Leaves Transcriptome Quantitative Trait Loci Zea mays Genome-Wide Association Study
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Epigenome-wide association study identifies a specific panel of DNA methylation signatures for antenatal and postpartum depressive symptoms.

Journal of affective disorders Apr 24, 2025
Depression during pregnancy and postpartum poses significant risks to both maternal and child well-being. The underlying biological mechanisms are unclear, but epigenetic variation could be exploited as a plausible candidate for early detection. We i...
Humans Pregnancy Female Adult Epigenome CpG Islands Pregnancy Complications Depression, Postpartum Depression Genome-Wide Association Study Epigenesis, Genetic DNA Methylation
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Breaking down data silos across companies to train genome-wide predictions: A feasibility study in wheat.

Plant biotechnology journal Apr 20, 2025
Big data, combined with artificial intelligence (AI) techniques, holds the potential to significantly enhance the accuracy of genome-wide predictions. Motivated by the success reported for wheat hybrids, we extended the scope to inbred lines by integ...
Feasibility Studies Genome, Plant Plant Breeding Artificial Intelligence Phenotype Genomics Genome-Wide Association Study Polymorphism, Single Nucleotide Genotype Triticum
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Prediction of new-onset migraine using clinical-genotypic data from the HUNT Study: a machine learning analysis.

The journal of headache and pain Apr 7, 2025
BACKGROUND: Migraine is associated with a range of symptoms and comorbid disorders and has a strong genetic basis, but the currently identified risk loci only explain a small portion of the heritability, often termed the "missing heritability". We ai...
Genotype Migraine Disorders Norway Humans Middle Aged Machine Learning Genome-Wide Association Study Cohort Studies Genetic Predisposition to Disease Female Aged Adult Male
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Biological Prior Knowledge-Embedded Deep Neural Network for Plant Genomic Prediction.

Genes Mar 31, 2025
Genomic prediction is a powerful approach that predicts phenotypic traits from genotypic information, enabling the acceleration of trait improvement in plant breeding. Traditional genomic prediction methods have primarily relied on linear mixed mode...
Genome, Plant Plant Breeding Genomics Polymorphism, Single Nucleotide Genotype Neural Networks, Computer Phenotype Deep Learning Genome-Wide Association Study
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