AIMC Topic: Polymorphism, Single Nucleotide

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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
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...

Machine learning-driven identification of critical gene programs and key transcription factors in migraine.

The journal of headache and pain
BACKGROUND: Migraine is a complex neurological disorder characterized by recurrent episodes of severe headaches. Although genetic factors have been implicated, the precise molecular mechanisms, particularly gene expression patterns in migraine-associ...

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...

PIDGN: An explainable multimodal deep learning framework for early prediction of Parkinson's disease.

Journal of neuroscience methods
BACKGROUND: Parkinson's disease (PD), the second most common neurodegenerative disease in the world, is usually not diagnosed until the later stages of the disease, when patients might have already missed the best treatment period. Therefore, more ef...

Multiple, Single Trait GWAS and Supervised Machine Learning Reveal the Genetic Architecture of Fraxinus excelsior Tolerance to Ash Dieback in Europe.

Plant, cell & environment
Common ash (Fraxinus excelsior) is under intensive attack from the invasive alien pathogenic fungus Hymenoscyphus fraxineus, causing ash dieback at epidemic levels throughout Europe. Previous studies have found significant genetic variation among gen...

Genomic determinants of biological age estimated by deep learning applied to retinal images.

GeroScience
With the development of deep learning (DL) techniques, there has been a successful application of this approach to determine biological age from latent information contained in retinal images. Retinal age gap (RAG) defined as the difference between c...

Single-nucleotide polymorphisms in genes associated with the vitamin D pathway related to clinical and therapeutic outcomes of American tegumentary leishmaniasis.

Frontiers in cellular and infection microbiology
BACKGROUND: The vitamin D pathway contributes to the microbicidal activity of macrophages against infection. In addition to induction of this pathway, interferon-gamma (IFNγ), interleukin (IL)-15, and IL32γ are part of a network of pro-inflammatory ...

Rapid and accurate multi-phenotype imputation for millions of individuals.

Nature communications
Deep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources. Although many phenotypic imputation methods have been ...

Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.

Nature communications
Bone marrow adipose tissue is a distinct adipose subtype comprising more than 10% of fat mass in healthy humans. However, the functions and pathophysiological correlates of this tissue are unclear, and its genetic determinants remain unknown. Here, w...

Fusion of brain imaging genetic data for alzheimer's disease diagnosis and causal factors identification using multi-stream attention mechanisms and graph convolutional networks.

Neural networks : the official journal of the International Neural Network Society
Correctly diagnosing Alzheimer's disease (AD) and identifying pathogenic brain regions and genes play a vital role in understanding the AD and developing effective prevention and treatment strategies. Recent works combine imaging and genetic data, an...