AI Medical Compendium Topic

Explore the latest research on artificial intelligence and machine learning in medicine.

Genetic Predisposition to Disease

Showing 71 to 80 of 261 articles

Clear Filters

Hessian Regularized -Nonnegative Matrix Factorization and Deep Learning for miRNA-Disease Associations Prediction.

Interdisciplinary sciences, computational life sciences
Since the identification of microRNAs (miRNAs), empirical research has demonstrated their crucial involvement in the functioning of organisms. Investigating miRNAs significantly bolsters efforts related to averting, diagnosing, and treating intricate...

Machine learning-based ensemble approach in prediction of lung cancer predisposition using XRCC1 gene polymorphism.

Journal of biomolecular structure & dynamics
The employment of machine learning approaches has shown promising results in predicting cancer. In the current study, polymorphisms data of five single nucleotide polymorphisms (SNPs) of DNA repair gene XRCC1 (XRCC1 399, XRCC1 194, XRCC1 206, XRCC1 6...

DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants.

PLoS computational biology
The genetic etiology of brain disorders is highly heterogeneous, characterized by abnormalities in the development of the central nervous system that lead to diminished physical or intellectual capabilities. The process of determining which gene driv...

Explainable multi-task learning improves the parallel estimation of polygenic risk scores for many diseases through shared genetic basis.

PLoS computational biology
Many complex diseases share common genetic determinants and are comorbid in a population. We hypothesized that the co-occurrences of diseases and their overlapping genetic etiology can be exploited to simultaneously improve multiple diseases' polygen...

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.

Circulation. Genomic and precision medicine
BACKGROUND: Artificial intelligence (AI) models applied to 12-lead ECG waveforms can predict atrial fibrillation (AF), a heritable and morbid arrhythmia. However, the factors forming the basis of risk predictions from AI models are usually not well u...

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.

International journal of molecular sciences
Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case-control st...

Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.

Theranostics
With the surge of the high-throughput sequencing technologies, many genetic variants have been identified in the past decade. The vast majority of these variants are defined as variants of uncertain significance (VUS), as their significance to the fu...

Artificial Intelligence Based Study Association between p53 Gene Polymorphism and Endometriosis: A Systematic Review and Meta-analysis.

Computational intelligence and neuroscience
BACKGROUND: The P53 gene is critical to the onset and progression of cancers. Currently, relevant study findings indicate that the p53 gene may have a strong association with the risk of endometriosis, but these findings have not been united. To gath...

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome medicine
BACKGROUND: Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions. However, current criteria and ris...

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

Scientific reports
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application o...