AIMC Topic: Introns

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Machine-Learning-Based Analysis in Genome-Edited Cells Reveals the Efficiency of Clathrin-Mediated Endocytosis.

Cell reports Sep 17, 2015
Cells internalize various molecules through clathrin-mediated endocytosis (CME). Previous live-cell imaging studies suggested that CME is inefficient, with about half of the events terminated. These CME efficiency estimates may have been confounded b...
Dynamins Clathrin Dynamin II Female Cell Line, Tumor Humans Endocytosis Molecular Sequence Data Exons Base Sequence Adaptor Protein Complex 2 Genome, Human Mammary Glands, Human Introns Support Vector Machine Epithelial Cells
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) Dec 18, 2014
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
MutL Protein Homolog 1 RNA Splice Sites Genetic Variation Quantitative Trait Loci Exons Polymorphism, Single Nucleotide DNA Molecular Sequence Annotation RNA Splicing RNA-Binding Proteins Genetic Code Genetic Markers Colorectal Neoplasms, Hereditary Nonpolyposis Child Development Disorders, Pervasive Nuclear Proteins Introns Muscular Atrophy, Spinal Computer Simulation Models, Genetic Humans Adaptor Proteins, Signal Transducing Mutation, Missense Genome-Wide Association Study Artificial Intelligence
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An effective deep learning-based approach for splice site identification in gene expression.

Science progress Jan 1, 2024
A crucial stage in eukaryote gene expression involves mRNA splicing by a protein assembly known as the spliceosome. This step significantly contributes to generating and properly operating the ultimate gene product. Since non-coding introns disrupt e...
Deep Learning Computational Biology RNA, Messenger Humans Neural Networks, Computer RNA Splicing Gene Expression Exons Algorithms Introns RNA Splice Sites
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eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping.

Nucleic acids research Jul 2, 2021
Exon skipping using antisense oligonucleotides (ASOs) has recently proven to be a powerful tool for mRNA splicing modulation. Several exon-skipping ASOs have been approved to treat genetic diseases worldwide. However, a significant challenge is the d...
Machine Learning Sequence Analysis RNA Splicing Oligonucleotides, Antisense Introns Software Databases, Nucleic Acid Internet Exons
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mirtronDB: a mirtron knowledge base.

Bioinformatics (Oxford, England) Oct 1, 2019
MOTIVATION: Mirtrons arise from short introns with atypical cleavage by using the splicing mechanism. In the current literature, there is no repository centralizing and organizing the data available to the public. To fill this gap, we developed mirtr...
Software Introns RNA Splicing MicroRNAs Knowledge Bases
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Machine learning annotation of human branchpoints.

Bioinformatics (Oxford, England) Mar 15, 2018
MOTIVATION: The branchpoint element is required for the first lariat-forming reaction in splicing. However current catalogues of human branchpoints remain incomplete due to the difficulty in experimentally identifying these splicing elements. To addr...
Introns RNA Splicing Genome, Human Molecular Sequence Annotation Machine Learning Software Sequence Analysis, DNA Genetic Variation Sensitivity and Specificity Humans
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