AIMC Topic: Polymorphism, Single Nucleotide
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Genome-wide association study-based prediction of atrial fibrillation using artificial intelligence.
Open heart
Jan 1, 2022
OBJECTIVE: We previously reported early-onset atrial fibrillation (AF) associated genetic loci among a Korean population. We explored whether the AF-associated single-nucleotide polymorphisms (SNPs) selected from the Genome-Wide Association Study (GW...
High-performance deep learning pipeline predicts individuals in mixtures of DNA using sequencing data.
Briefings in bioinformatics
Nov 5, 2021
In this study, we proposed a deep learning (DL) model for classifying individuals from mixtures of DNA samples using 27 short tandem repeats and 94 single nucleotide polymorphisms obtained through massively parallel sequencing protocol. The model was...
Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5.
Briefings in bioinformatics
Nov 5, 2021
Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Although genome-wide association studies (GWAS) identify the risk ADHD-associated variants and genes with significant P-values, they may neglect the combined eff...
Machine learning for identifying resistance features of using whole-genome sequence single nucleotide polymorphisms.
Journal of medical microbiology
Nov 1, 2021
, a gram-negative bacterium, is a common pathogen causing nosocomial infection. The drug-resistance rate of is increasing year by year, posing a severe threat to public health worldwide. has been listed as one of the pathogens causing the global c...
Recent advances in network-based methods for disease gene prediction.
Briefings in bioinformatics
Jul 20, 2021
Disease-gene association through genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms that correlate with specific diseases needs statistical analysis of associations. Considering the ...
Revisiting genome-wide association studies from statistical modelling to machine learning.
Briefings in bioinformatics
Jul 20, 2021
Over the last decade, genome-wide association studies (GWAS) have discovered thousands of genetic variants underlying complex human diseases and agriculturally important traits. These findings have been utilized to dissect the biological basis of dis...
Synthetic observations from deep generative models and binary omics data with limited sample size.
Briefings in bioinformatics
Jul 20, 2021
Deep generative models can be trained to represent the joint distribution of data, such as measurements of single nucleotide polymorphisms (SNPs) from several individuals. Subsequently, synthetic observations are obtained by drawing from this distrib...
Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants.
Bioinformatics (Oxford, England)
Jun 16, 2021
MOTIVATION: Although genome-wide association studies (GWASs) have identified thousands of variants for various traits, the causal variants and the mechanisms underlying the significant loci are largely unknown. In this study, we aim to predict non-co...
Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.
Proceedings of the National Academy of Sciences of the United States of America
Jan 19, 2021
Exon splicing triggered by unpredicted genetic mutation can cause translational variations in neurodegenerative disorders. In this study, we discover Alzheimer's disease (AD)-specific single-nucleotide variants (SNVs) and abnormal exon splicing of ph...
Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations.
Nucleic acids research
Jan 11, 2021
Assessing the causal tissues of human complex diseases is important for the prioritization of trait-associated genetic variants. Yet, the biological underpinnings of trait-associated variants are extremely difficult to infer due to statistical noise ...
Histone Code
Linkage Disequilibrium
Genetic Diseases, Inborn
Chromatin Immunoprecipitation
Organ Specificity
Humans
Molecular Sequence Annotation
Deep Learning
Binding Sites
Transcription Factors
Genome-Wide Association Study
Epigenome
Polymorphism, Single Nucleotide
Causality
Datasets as Topic
Epigenomics
Models, Genetic
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