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Genome-Wide Association Study

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Using GWAS and Machine Learning to Identify and Predict Genetic Variants Associated with Foodborne Bacteria Phenotypic Traits.

Methods in molecular biology (Clifton, N.J.)
One of the main challenges in food microbiology is to prevent the risk of outbreaks by avoiding the distribution of food contaminated by bacteria. This requires constant monitoring of the circulating strains throughout the food production chain. Bact...

Inferring the genetic relationships between unsupervised deep learning-derived imaging phenotypes and glioblastoma through multi-omics approaches.

Briefings in bioinformatics
This study aimed to investigate the genetic association between glioblastoma (GBM) and unsupervised deep learning-derived imaging phenotypes (UDIPs). We employed a combination of genome-wide association study (GWAS) data, single-nucleus RNA sequencin...

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...

RiceSNP-ABST: a deep learning approach to identify abiotic stress-associated single nucleotide polymorphisms in rice.

Briefings in bioinformatics
Given the adverse effects faced by rice due to abiotic stresses, the precise and rapid identification of single nucleotide polymorphisms (SNPs) associated with abiotic stress traits (ABST-SNPs) in rice is crucial for developing resistant rice varieti...

Sub-sampling graph neural networks for genomic prediction of quantitative phenotypes.

G3 (Bethesda, Md.)
In genomics, use of deep learning (DL) is rapidly growing and DL has successfully demonstrated its ability to uncover complex relationships in large biological and biomedical data sets. With the development of high-throughput sequencing techniques, g...

Interpretation of SNP combination effects on schizophrenia etiology based on stepwise deep learning with multi-precision data.

Briefings in functional genomics
Schizophrenia genome-wide association studies (GWAS) have reported many genomic risk loci, but it is unclear how they affect schizophrenia susceptibility through interactions of multiple SNPs. We propose a stepwise deep learning technique with multi-...

RiceSNP-BST: a deep learning framework for predicting biotic stress-associated SNPs in rice.

Briefings in bioinformatics
Rice consistently faces significant threats from biotic stresses, such as fungi, bacteria, pests, and viruses. Consequently, accurately and rapidly identifying previously unknown single-nucleotide polymorphisms (SNPs) in the rice genome is a critical...

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...

Enhanced osteoporotic fracture prediction in postmenopausal women using Bayesian optimization of machine learning models with genetic risk score.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
This study aimed to enhance the fracture risk prediction accuracy in major osteoporotic fractures (MOFs) and hip fractures (HFs) by integrating genetic profiles, machine learning (ML) techniques, and Bayesian optimization. The genetic risk score (GRS...