AIMC Topic: Exons

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Exon-intron boundary detection made easy by physicochemical properties of DNA.

Molecular omics May 15, 2025
Genome architecture in eukaryotes exhibits a high degree of complexity. Amidst the numerous intricacies, the existence of genes as non-continuous stretches composed of exons and introns has garnered significant attention and curiosity among researche...
Humans Animals Introns RNA Splicing Exons Deep Learning Computational Biology DNA
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Optimized convolutional neural network using African vulture optimization algorithm for the detection of exons.

Scientific reports Jan 30, 2025
The detection of exons is an important area of research in genomic sequence analysis. Many signal-processing methods have been established successfully for detecting the exons based on their periodicity property. However, some improvement is still re...
Exons Sequence Analysis, DNA Humans Introns Neural Networks, Computer Algorithms Convolutional Neural Networks Computational Biology
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Predicting splicing patterns from the transcription factor binding sites in the promoter with deep learning.

BMC genomics Sep 3, 2024
BACKGROUND: Alternative splicing is a pivotal mechanism of post-transcriptional modification that contributes to the transcriptome plasticity and proteome diversity in metazoan cells. Although many splicing regulations around the exon/intron regions ...
Humans Deep Learning Alternative Splicing Promoter Regions, Genetic Binding Sites Exons Computational Biology Transcription Factors
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CircCNNs, a convolutional neural network framework to better understand the biogenesis of exonic circRNAs.

Scientific reports Aug 16, 2024
Circular RNAs (circRNAs) as biomarkers for cancer detection have been extensively explored, however, the biogenesis mechanism is still elusive. In contrast to linear splicing (LS) involved in linear transcript formation, the so-called back splicing (...
Humans Neural Networks, Computer Machine Learning RNA, Circular Computational Biology RNA Splicing Exons
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Using machine learning to detect the differential usage of novel gene isoforms.

BMC bioinformatics Jan 18, 2022
BACKGROUND: Differential isoform usage is an important driver of inter-individual phenotypic diversity and is linked to various diseases and traits. However, accurately detecting the differential usage of different gene transcripts between groups can...
Exons Alternative Splicing Machine Learning Gene Expression Profiling Sequence Analysis, RNA Protein Isoforms
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StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.

American journal of human genetics Jan 14, 2022
Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base ...
Exons Genomic Structural Variation ROC Curve Genomics Whole Genome Sequencing Supervised Machine Learning Datasets as Topic Genome, Human Humans Software Algorithms
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Prediction of functional microexons by transfer learning.

BMC genomics Nov 26, 2021
BACKGROUND: Microexons are a particular kind of exon of less than 30 nucleotides in length. More than 60% of annotated human microexons were found to have high levels of sequence conservation, suggesting their potential functions. There is thus a nee...
Support Vector Machine Humans Exons
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Improved prediction of smoking status via isoform-aware RNA-seq deep learning models.

PLoS computational biology Oct 11, 2021
Most predictive models based on gene expression data do not leverage information related to gene splicing, despite the fact that splicing is a fundamental feature of eukaryotic gene expression. Cigarette smoking is an important environmental risk fac...
Middle Aged Protein Isoforms Female Gene Expression Profiling Exons ROC Curve Aged Models, Statistical Deep Learning Male RNA-Seq Humans Smoking Computational Biology
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A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Nature communications Jun 7, 2021
Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing due to mutation lead to dysregulated protein expression and contribute to a substantial fraction of human disease. Several classes of splicing modulator compound...
HEK293 Cells tau Proteins Humans Gene Targeting Sterol Esterase Animals RNA Splicing Pyridazines Mutation Transcriptome Deep Learning Exons Mice, Transgenic Phenethylamines Mice Cystic Fibrosis Transmembrane Conductance Regulator MutL Protein Homolog 1 Computational Biology
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MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning.

International journal of molecular sciences Apr 19, 2021
BACKGROUND: Disruption of alternative splicing (AS) is frequently observed in cancer and might represent an important signature for tumor progression and therapy. Exon skipping (ES) represents one of the most frequent AS events, and in non-small cell...
Deep Learning Humans Genetic Variation Neural Networks, Computer Exons
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