AIMC Topic: Genetic Association Studies

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

EBioMedicine Apr 24, 2025
BACKGROUND: Decisions to split two or more phenotypic manifestations related to genetic variations within the same gene can be challenging, especially during the early stages of syndrome discovery. Genotype-based diagnostics with artificial intellige...
Artificial Intelligence Phenotype Female Male Humans Epigenomics DNA Methylation Syndrome Tumor Suppressor Proteins Gene Expression Profiling Genotype Genetic Association Studies Epigenesis, Genetic
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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...
Polymorphism, Single Nucleotide Genetic Association Studies Multifactorial Inheritance Humans Neural Networks, Computer Phenotype Female Male Case-Control Studies Genome-Wide Association Study Genetic Predisposition to Disease
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Multimodal learning for mapping genotype-phenotype dynamics.

Nature computational science Jan 28, 2025
How complex phenotypes emerge from intricate gene expression patterns is a fundamental question in biology. Integrating high-content genotyping approaches such as single-cell RNA sequencing and advanced learning methods such as language models offers...
von Willebrand Factor Machine Learning Phenotype Gene Expression Profiling Transcriptome Single-Cell Analysis Genotype Genetic Association Studies Computational Biology Humans
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Association of and gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population.

Frontiers in immunology Jan 21, 2025
INTRODUCTION: Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. Although RA is chiefly associated with HLA class II, nevertheless some HLA class I associations have also been observed. These molecules present...
Aminopeptidases Arthritis, Rheumatoid Minor Histocompatibility Antigens Genetic Predisposition to Disease Adult Polymorphism, Single Nucleotide Humans Male Genotype Female Middle Aged Genetic Association Studies Aged Severity of Illness Index
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Deep self-representation learning with hyper-laplacian regularization for brain imaging genetics association analysis.

Methods (San Diego, Calif.) Jan 19, 2025
Brain imaging genetics aims to explore the association between genetic factors such as single nucleotide polymorphisms (SNPs) and brain imaging quantitative traits (QTs). However, most existing methods do not consider the nonlinear correlations betwe...
Brain Deep Learning Genome-Wide Association Study Image Processing, Computer-Assisted Humans Neural Networks, Computer Algorithms Neuroimaging Polymorphism, Single Nucleotide Genotype Genetic Association Studies Magnetic Resonance Imaging
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Applying artificial intelligence to uncover the genetic landscape of coagulation factors.

Journal of thrombosis and haemostasis : JTH Jan 9, 2025
Artificial intelligence (AI) is rapidly advancing our ability to identify and interpret genetic variants associated with coagulation factor deficiencies. This review introduces AI, with a specific focus on machine learning (ML) methods, and examines ...
Humans Artificial Intelligence Machine Learning Mutation Genetic Variation Phenotype Blood Coagulation Factors Genetic Predisposition to Disease Hemophilia A Genetic Association Studies Blood Coagulation
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Machine learning approaches and genetic determinants that influence the development of type 2 diabetes mellitus: a genetic association study in Brazilian patients.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas Dec 2, 2024
This genetic association study including 120 patients with type 2 diabetes mellitus (T2DM) and 166 non-diabetic individuals aimed to investigate the association of polymorphisms in the genes GSTM1 and GSTT1 (gene deletion), GSTP1 (rs1695), ACE (rs464...
Polymorphism, Genetic Adult Glutathione S-Transferase pi Humans Male Middle Aged Machine Learning Case-Control Studies Genotype Brazil Female Diabetes Mellitus, Type 2 Genetic Association Studies Risk Factors Genetic Predisposition to Disease Vascular Endothelial Growth Factor A Aged Polymorphism, Single Nucleotide Glutathione Transferase
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Screening the Best Risk Model and Susceptibility SNPs for Chronic Obstructive Pulmonary Disease (COPD) Based on Machine Learning Algorithms.

International journal of chronic obstructive pulmonary disease Nov 5, 2024
BACKGROUND AND PURPOSE: Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors, and genetic factors are important determinants of COPD. This study focuses on scree...
Risk Factors Aged Pulmonary Disease, Chronic Obstructive Male Middle Aged Risk Assessment Lung Case-Control Studies Machine Learning Algorithms Phenotype Female Humans Logistic Models ROC Curve Predictive Value of Tests Genetic Predisposition to Disease Polymorphism, Single Nucleotide Genetic Association Studies
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A deep learning framework for predicting disease-gene associations with functional modules and graph augmentation.

BMC bioinformatics Jun 14, 2024
BACKGROUND: The exploration of gene-disease associations is crucial for understanding the mechanisms underlying disease onset and progression, with significant implications for prevention and treatment strategies. Advances in high-throughput biotechn...
Genetic Predisposition to Disease Genetic Association Studies Computational Biology Algorithms Humans Deep Learning Neural Networks, Computer Protein Interaction Maps
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PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies.

Genome medicine Apr 16, 2024
Despite the abundance of genotype-phenotype association studies, the resulting association outcomes often lack robustness and interpretations. To address these challenges, we introduce PheSeq, a Bayesian deep learning model that enhances and interpre...
Breast Neoplasms Humans Deep Learning Female Lung Neoplasms Bayes Theorem Genetic Association Studies Alzheimer Disease
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