AIMC Topic: Polymorphism, Single Nucleotide

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PlantMine: A Machine-Learning Framework to Detect Core SNPs in Rice Genomics.

Genes May 9, 2024
As a fundamental global staple crop, rice plays a pivotal role in human nutrition and agricultural production systems. However, its complex genetic architecture and extensive trait variability pose challenges for breeders and researchers in optimizin...
Polymorphism, Single Nucleotide Oryza Genome, Plant Plant Breeding Machine Learning Genomics
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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Prenatal diagnosis Apr 30, 2024
OBJECTIVE: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularl...
Humans Polymorphism, Single Nucleotide Cell-Free Nucleic Acids Bayes Theorem Genetic Diseases, Inborn Machine Learning Pregnancy Female Noninvasive Prenatal Testing
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An Explainable Deep Learning Classifier of Bovine Mastitis Based on Whole-Genome Sequence Data-Circumventing the p >> n Problem.

International journal of molecular sciences Apr 26, 2024
The serious drawback underlying the biological annotation of whole-genome sequence data is the p >> n problem, which means that the number of polymorphic variants (p) is much larger than the number of available phenotypic records (n). We propose a wa...
Whole Genome Sequencing Mastitis, Bovine Genetic Predisposition to Disease Polymorphism, Single Nucleotide Genotype Female Animals Deep Learning Cattle
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ISMI-VAE: A deep learning model for classifying disease cells using gene expression and SNV data.

Computers in biology and medicine Apr 16, 2024
Various studies have linked several diseases, including cancer and COVID-19, to single nucleotide variations (SNV). Although single-cell RNA sequencing (scRNA-seq) technology can provide SNV and gene expression data, few studies have integrated and a...
Deep Learning Single-Cell Analysis Polymorphism, Single Nucleotide COVID-19 Pneumonia, Viral Coronavirus Infections SARS-CoV-2 Betacoronavirus Humans Neoplasms Pandemics
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Assessing the reproducibility of machine-learning-based biomarker discovery in Parkinson's disease.

Computers in biology and medicine Apr 5, 2024
Feature selection and machine learning algorithms can be used to analyze Single Nucleotide Polymorphisms (SNPs) data and identify potential disease biomarkers. Reproducibility of identified biomarkers is critical for them to be useful for clinical re...
Polymorphism, Single Nucleotide Databases, Genetic Parkinson Disease Machine Learning Biomarkers Reproducibility of Results Genetic Markers Humans
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An Improved Clinical and Genetics-Based Prediction Model for Diabetic Foot Ulcer Healing.

Advances in wound care Mar 5, 2024
The goal of this investigation was to use comprehensive prediction modeling tools and available genetic information to try to improve upon the performance of simple clinical models in predicting whether a diabetic foot ulcer (DFU) will heal. We uti...
Adaptor Proteins, Signal Transducing Diabetic Foot Humans Female Machine Learning Aged Prognosis Male Middle Aged Cohort Studies ROC Curve Polymorphism, Single Nucleotide Wound Healing
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Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression.

Molecular systems biology Feb 14, 2024
Multiplexed assays of variant effect are powerful methods to profile the consequences of rare variants on gene expression and organismal fitness. Yet, few studies have integrated several multiplexed assays to map variant effects on gene expression in...
Ribosomes Catechol O-Methyltransferase Polymorphism, Single Nucleotide RNA, Messenger Protein Biosynthesis Humans Machine Learning
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Integrating Machine Learning and Mendelian Randomization Determined a Functional Neurotrophin-Related Gene Signature in Patients with Lower-Grade Glioma.

Molecular biotechnology Jan 23, 2024
Recent researches reported that neurotrophins can promote glioma growth/invasion but the relevant model for predicting patients' survival in Lower-Grade Gliomas (LGGs) lacked. In this study, we adopted univariate Cox analysis, LASSO regression, and m...
Humans Homeodomain Proteins Machine Learning Nerve Growth Factors Sulfotransferases Prognosis Mendelian Randomization Analysis Neoplasm Grading Proportional Hazards Models Polymorphism, Single Nucleotide Gene Expression Regulation, Neoplastic Glioma DNA Copy Number Variations Female Brain Neoplasms Male
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology.

Journal of human genetics Jan 15, 2024
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies and conducting subsequent fine-mapping. Recently, several deep learning-based genotype imputation me...
Linkage Disequilibrium Genotype Genomics Genome, Human Polymorphism, Single Nucleotide Humans Deep Learning Genome-Wide Association Study
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Classifying Alzheimer's disease and normal subjects using machine learning techniques and genetic-environmental features.

Journal of the Formosan Medical Association = Taiwan yi zhi Dec 2, 2023
BACKGROUND: Alzheimer's disease (AD) is complicated by multiple environmental and polygenetic factors. The accuracy of artificial neural networks (ANNs) incorporating the common factors for identifying AD has not been evaluated.
Sensitivity and Specificity Alzheimer Disease Male Gene-Environment Interaction Female Case-Control Studies Mitochondrial Precursor Protein Import Complex Proteins Aged ROC Curve Aged, 80 and over Humans Polymorphism, Single Nucleotide Neural Networks, Computer Support Vector Machine Machine Learning
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