AIMC Topic: Polymorphism, Single Nucleotide
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Mitochondrial mt12361A>G increased risk of metabolic dysfunction-associated steatotic liver disease among non-diabetes.
World journal of gastroenterology
Mar 14, 2025
BACKGROUND: Insulin resistance, lipotoxicity, and mitochondrial dysfunction contribute to the pathogenesis of metabolic dysfunction-associated steatotic liver disease (MASLD). Mitochondrial dysfunction impairs oxidative phosphorylation and increases ...
MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.
Briefings in bioinformatics
Mar 4, 2025
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...
Integration of machine learning and genome-wide association study to explore the genomic prediction accuracy of agronomic trait in oats (Avena sativa L.).
The plant genome
Mar 1, 2025
Machine learning (ML) has garnered significant attention for its potential to enhance the accuracy of genomic predictions (GPs) in various economic crops with the use of complete genomic information. Genome-wide association studies (GWAS) are widely ...
Enhancing genomic-based forward prediction accuracy in wheat by integrating UAV-derived hyperspectral and environmental data with machine learning under heat-stressed environments.
The plant genome
Mar 1, 2025
Integrating genomic, hyperspectral imaging (HSI), and environmental data enhances wheat yield predictions, with HSI providing detailed spectral insights for predicting complex grain yield (GY) traits. Incorporating HSI data with single nucleotide pol...
Diagnosis of Alzheimer's disease using FusionNet with improved secretary bird optimization algorithm for optimal MK-SVM based on imaging genetic data.
Cerebral cortex (New York, N.Y. : 1991)
Feb 5, 2025
Alzheimer's disease is an irreversible central neurodegenerative disease, and early diagnosis of Alzheimer's disease is beneficial for its prevention and early intervention treatment. In this study, we propose a novel framework, FusionNet-ISBOA-MK-SV...
Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.
Biomedical and environmental sciences : BES
Jan 20, 2025
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.
Leveraging molecular-QTL co-association to predict novel disease-associated genetic loci using a graph convolutional neural network.
PloS one
Jan 1, 2025
Genome-wide association studies (GWAS) have successfully uncovered numerous associations between genetic variants and disease traits to date. Yet, identifying significantly associated loci remains a considerable challenge due to the concomitant multi...
Evaluation of machine learning algorithms and computational structural validation of CYP2D6 in predicting the therapeutic response to tamoxifen in breast cancer.
European review for medical and pharmacological sciences
Dec 1, 2024
OBJECTIVE: CYP2D6 plays a critical role in metabolizing tamoxifen into its active metabolite, endoxifen, which is crucial for its therapeutic effect in estrogen receptor-positive breast cancer. Single nucleotide polymorphisms (SNPs) in the CYP2D6 gen...
Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.
Briefings in bioinformatics
Nov 22, 2024
Augmenting traditional genome-wide association studies (GWAS) with advanced machine learning algorithms can allow the detection of novel signals in available cohorts. We introduce "genome-wide association neural networks (GWANN)" a novel approach tha...
RiceSNP-ABST: a deep learning approach to identify abiotic stress-associated single nucleotide polymorphisms in rice.
Briefings in bioinformatics
Nov 22, 2024
Given the adverse effects faced by rice due to abiotic stresses, the precise and rapid identification of single nucleotide polymorphisms (SNPs) associated with abiotic stress traits (ABST-SNPs) in rice is crucial for developing resistant rice varieti...
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