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Polymorphism, Single Nucleotide

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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
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...

Predicting laboratory aspirin resistance in Chinese stroke patients using machine learning models by GP1BA polymorphism.

Pharmacogenomics
This study aims to use machine learning model to predict laboratory aspirin resistance (AR) in Chinese stroke patients by incorporating patient characteristics and single nucleotide polymorphisms of and . 2405 patients were analyzed to measure the M...

Semi-supervised learning with pseudo-labeling compares favorably with large language models for regulatory sequence prediction.

Briefings in bioinformatics
Predicting molecular processes using deep learning is a promising approach to provide biological insights for non-coding single nucleotide polymorphisms identified in genome-wide association studies. However, most deep learning methods rely on superv...

Predicting functional outcome in ischemic stroke patients using genetic, environmental, and clinical factors: a machine learning analysis of population-based prospective cohort study.

Briefings in bioinformatics
Ischemic stroke (IS) is a leading cause of adult disability that can severely compromise the quality of life for patients. Accurately predicting the IS functional outcome is crucial for precise risk stratification and effective therapeutic interventi...

Valid inference for machine learning-assisted genome-wide association studies.

Nature genetics
Machine learning (ML) has become increasingly popular in almost all scientific disciplines, including human genetics. Owing to challenges related to sample collection and precise phenotyping, ML-assisted genome-wide association study (GWAS), which us...

Multimodal AI/ML for discovering novel biomarkers and predicting disease using multi-omics profiles of patients with cardiovascular diseases.

Scientific reports
Cardiovascular diseases (CVDs) are complex, multifactorial conditions that require personalized assessment and treatment. Advancements in multi-omics technologies, namely RNA sequencing and whole-genome sequencing, have provided translational researc...

Machine learning model identifies genetic predictors of cisplatin-induced ototoxicity in CERS6 and TLR4.

Computers in biology and medicine
BACKGROUND: Cisplatin-induced ototoxicity remains a significant concern in pediatric cancer treatment due to its permanent impact on quality of life. Previously, genetic association analyses have been performed to detect genetic variants associated w...

Phylogenomics and phylogeographic model testing using convolutional neural networks reveal a history of recent admixture in the Canarian Kleinia neriifolia.

Molecular ecology
Multiple-island endemics (MIE) are considered ideal natural subjects to study patterns of island colonization that involve recent population-level genetic processes. Kleinia neriifolia is a Canarian MIE widespread across the archipelago, which exhibi...

M-NET: Transforming Single Nucleotide Variations Into Patient Feature Images for the Prediction of Prostate Cancer Metastasis and Identification of Significant Pathways.

IEEE journal of biomedical and health informatics
High-performance prediction of prostate cancer metastasis based on single nucleotide variations remains a challenge. Therefore, we developed a novel biologically informed deep learning framework, named M-NET, for the prediction of prostate cancer met...