AIMC Topic: Genome-Wide Association Study

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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...
Bone Diseases Quantitative Trait Loci Humans Linkage Disequilibrium Immune System Diseases Genome-Wide Association Study Multiomics Genetic Predisposition to Disease Mendelian Randomization Analysis Polymorphism, Single Nucleotide Bayes Theorem
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Integrating Deep Learning Models with Genome-Wide Association Study-Based Identification Enhanced Phenotype Predictions in Group A .

Journal of microbiology and biotechnology Mar 26, 2025
Group A (GAS) is a major pathogen with diverse clinical outcomes linked to its genetic variability, making accurate phenotype prediction essential. While previous studies have identified many GAS-associated genetic factors, translating these finding...
Phenotype Deep Learning Genome-Wide Association Study Streptococcus pyogenes Genome, Bacterial Genotype Streptococcal Infections Humans Neural Networks, Computer
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aurora: a machine learning gwas tool for analyzing microbial habitat adaptation.

Genome biology Mar 23, 2025
A primary goal of microbial genome-wide association studies is identifying genomic variants associated with a particular habitat. Existing tools fail to identify known causal variants if the analyzed trait shaped the phylogeny. Furthermore, due to in...
Adaptation, Physiological Phylogeny Genome-Wide Association Study Bacteria Machine Learning Software Ecosystem
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Analysis of shared pathogenic mechanisms and drug targets in myocardial infarction and gastric cancer based on transcriptomics and machine learning.

Frontiers in immunology Mar 21, 2025
BACKGROUND: Recent studies have suggested a potential association between gastric cancer (GC) and myocardial infarction (MI), with shared pathogenic factors. This study aimed to identify these common factors and potential pharmacologic targets.
Mendelian Randomization Analysis Stomach Neoplasms Myocardial Infarction Gene Expression Profiling Transcriptome Genome-Wide Association Study Genetic Predisposition to Disease Humans Nomograms Machine Learning
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Exploring the application of deep learning methods for polygenic risk score estimation.

Biomedical physics & engineering express Mar 13, 2025
. Polygenic risk scores (PRS) summarise genetic information into a single number with clinical and research uses. Deep learning (DL) has revolutionised multiple fields, however, the impact of DL on PRSs has been less significant. We explore how DL ca...
Risk Assessment Deep Learning Genome-Wide Association Study Humans Algorithms Risk Factors Models, Genetic United Kingdom ROC Curve Multifactorial Inheritance Genetic Predisposition to Disease Genetic Risk Score Polymorphism, Single Nucleotide
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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...
Quantitative Trait, Heritable Genetic Variation Quantitative Trait Loci Ensemble Learning Humans Machine Learning Phenotype Genome-Wide Association Study Polymorphism, Single Nucleotide
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Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.

Genome biology Mar 10, 2025
BACKGROUND: Genome-wide association studies (GWAS) have identified common variants associated with metabolic dysfunction-associated steatotic liver disease (MASLD). However, rare coding variant studies have been limited by phenotyping challenges and ...
Humans Machine Learning Middle Aged Case-Control Studies Genome-Wide Association Study Phenotype Female Male Genetic Predisposition to Disease Polymorphism, Single Nucleotide Fatty Liver
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Leveraging Automated Machine Learning for Environmental Data-Driven Genetic Analysis and Genomic Prediction in Maize Hybrids.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) Mar 6, 2025
Genotype, environment, and genotype-by-environment (G×E) interactions play a critical role in shaping crop phenotypes. Here, a large-scale, multi-environment hybrid maize dataset is used to construct and validate an automated machine learning framewo...
Genomics Machine Learning Environment Genotype Phenotype Zea mays Genome, Plant Genome-Wide Association Study Gene-Environment Interaction
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Pharmacogenomics and response to lithium in bipolar disorder.

Pharmacogenomics Feb 25, 2025
AIMS: The present review explores the existing evidence on pharmacogenomic tests for prediction of lithium response in the treatment of bipolar disorder. We focused our research article on reports describing findings from genome-wide association stud...
Pharmacogenetics Humans Lithium Genome-Wide Association Study Precision Medicine Lithium Compounds Antimanic Agents Bipolar Disorder
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Genetic association studies using disease liabilities from deep neural networks.

American journal of human genetics Feb 21, 2025
The case-control study is a widely used method for investigating the genetic underpinnings of binary traits. However, long-term, prospective cohort studies often grapple with absent or evolving health-related outcomes. Here, we propose two methods, l...
Neural Networks, Computer Phenotype Female Male Case-Control Studies Genome-Wide Association Study Humans Multifactorial Inheritance Genetic Predisposition to Disease Polymorphism, Single Nucleotide Genetic Association Studies
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