AIMC Topic: Genetic Association Studies

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Denoising self-supervised learning for disease-gene association prediction.

BMC bioinformatics
Understanding the interplay between diseases and genes is crucial for gaining deeper insights into disease mechanisms and optimizing therapeutic strategies. In recent years, various computational methods have been developed to uncover potential disea...

Gene association study between polycystic ovary syndrome and metabolic syndrome: a transcriptomic analysis and machine learning approach.

Journal of ovarian research
BACKGROUND: Patients with polycystic ovary syndrome (PCOS) often experience a range of metabolic comorbidities, suggesting a potential association between PCOS and metabolic syndrome (MetS). However, this potential link has not yet been fully elucida...

A Systematic Review of the Application of Graph Neural Networks to Extract Candidate Genes and Biological Associations.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
The development of high throughput technologies has resulted in the collection of large quantities of genomic and transcriptomic data. However, identifying disease-associated genes or networks from these data has remained an ongoing challenge. In rec...

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

EBioMedicine
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...

Genetic association studies using disease liabilities from deep neural networks.

American journal of human genetics
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...

Multimodal learning for mapping genotype-phenotype dynamics.

Nature computational science
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...

Association of and gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population.

Frontiers in immunology
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...

Deep self-representation learning with hyper-laplacian regularization for brain imaging genetics association analysis.

Methods (San Diego, Calif.)
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...

Applying artificial intelligence to uncover the genetic landscape of coagulation factors.

Journal of thrombosis and haemostasis : JTH
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 ...

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
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...