AIMC Topic: Introns

Clear Filters Showing 1 to 10 of 16 articles

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 DNA RNA Splicing Introns Exons Animals Deep Learning Computational Biology
View on PubMed DOI

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...
Sequence Analysis, DNA Introns Exons Algorithms Convolutional Neural Networks Computational Biology Humans Neural Networks, Computer
View on PubMed DOI

The role of chromatin state in intron retention: A case study in leveraging large scale deep learning models.

PLoS computational biology Jan 10, 2025
Complex deep learning models trained on very large datasets have become key enabling tools for current research in natural language processing and computer vision. By providing pre-trained models that can be fine-tuned for specific applications, they...
Introns Chromatin Humans Computational Biology Deep Learning Models, Genetic Genomics Natural Language Processing
View on PubMed DOI

Splam: a deep-learning-based splice site predictor that improves spliced alignments.

Genome biology Sep 16, 2024
The process of splicing messenger RNA to remove introns plays a central role in creating genes and gene variants. We describe Splam, a novel method for predicting splice junctions in DNA using deep residual convolutional neural networks. Unlike previ...
Introns Sequence Alignment RNA Splicing Humans Neural Networks, Computer Deep Learning RNA Splice Sites
View on PubMed DOI

Benchmarking deep learning splice prediction tools using functional splice assays.

Human mutation May 20, 2021
Hereditary disorders are frequently caused by genetic variants that affect pre-messenger RNA splicing. Though genetic variants in the canonical splice motifs are almost always disrupting splicing, the pathogenicity of variants in the noncanonical spl...
Introns RNA Splicing RNA Splice Sites Mutation Benchmarking ATP-Binding Cassette Transporters Humans Deep Learning
View on PubMed DOI

2passtools: two-pass alignment using machine-learning-filtered splice junctions increases the accuracy of intron detection in long-read RNA sequencing.

Genome biology Mar 1, 2021
Transcription of eukaryotic genomes involves complex alternative processing of RNAs. Sequencing of full-length RNAs using long reads reveals the true complexity of processing. However, the relatively high error rates of long-read sequencing technolog...
Introns Sequence Alignment RNA Splicing RNA Splice Sites RNA-Seq Computational Biology Molecular Sequence Annotation Machine Learning Software Algorithms Reproducibility of Results
View on PubMed DOI

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.

Genome medicine Feb 22, 2021
BACKGROUND: Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are challenging to identify beyond...
Genetic Variation Humans RNA Splicing Base Sequence Deep Learning Introns Exons Genome-Wide Association Study
View on PubMed DOI

Ranking of non-coding pathogenic variants and putative essential regions of the human genome.

Nature communications Nov 20, 2019
A gene is considered essential if loss of function results in loss of viability, fitness or in disease. This concept is well established for coding genes; however, non-coding regions are thought less likely to be determinants of critical functions. H...
Supervised Machine Learning Enhancer Elements, Genetic Genetic Variation Genes, Reporter Genome, Human DNA Chromatin Nucleic Acid Conformation Gene Expression Introns Mutation INDEL Mutation Humans Computer Simulation
View on PubMed DOI

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.

Gene Dec 28, 2017
Non-syndromic stuttering is a neurodevelopmental disorder characterized by disruptions in normal flow of speech in the form of repetition, prolongation and involuntary halts. Previously, mutations with more severe effects on GNPTAB and GNPTG have bee...
Phosphoric Diester Hydrolases Genetic Predisposition to Disease Stuttering Mutation Male Transferases (Other Substituted Phosphate Groups) Homozygote Humans Heterozygote Child, Preschool Introns Phenotype Child Mucolipidoses Female
View on PubMed DOI

Predicting human splicing branchpoints by combining sequence-derived features and multi-label learning methods.

BMC bioinformatics Dec 1, 2017
BACKGROUND: Alternative splicing is the critical process in a single gene coding, which removes introns and joins exons, and splicing branchpoints are indicators for the alternative splicing. Wet experiments have identified a great number of human sp...
Position-Specific Scoring Matrices Humans Machine Learning Base Sequence Computational Biology Nucleotide Motifs Genome, Human RNA Splicing Introns Exons
View on PubMed DOI
Popular Topics
Recent Journals