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Genetic Predisposition to Disease

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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...

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 ...

Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.

Briefings in bioinformatics
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...

Disentangling the Genetic Landscape of Peripartum Depression: A Multi-Polygenic Machine Learning Approach on an Italian Sample.

Genes
BACKGROUND: The genetic determinants of peripartum depression (PPD) are not fully understood. Using a multi-polygenic score approach, we characterized the relationship between genome-wide information and the history of PPD in patients with mood disor...

Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.

Biomedical and environmental sciences : BES
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.

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...

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 ...

Multimodal multiview bilinear graph convolutional network for mild cognitive impairment diagnosis.

Biomedical physics & engineering express
Mild cognitive impairment (MCI) is a significant predictor of the early progression of Alzheimer's disease (AD) and can serve as an important indicator of disease progression. However, many existing methods focus mainly on the image when processing b...

Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders.

Science advances
DNA methylation (DNAm) is essential for brain development and function and potentially mediates the effects of genetic risk variants underlying brain disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory varian...

Transfer Learning Prediction of Early Exposures and Genetic Risk Score on Adult Obesity in Two Minority Cohorts.

Prevention science : the official journal of the Society for Prevention Research
Due to ethnic heterogeneity in genetic architecture, genetic risk score (GRS) constructed within the European population generally possesses poor portability in underrepresented non-European populations, but substantial genetic similarity exists acro...