AIMC Topic: Exons

Clear Filters Showing 21 to 28 of 28 articles

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...
Female Cell Line, Tumor Support Vector Machine Genome, Human Introns Epithelial Cells Base Sequence Humans Dynamins Exons Adaptor Protein Complex 2 Clathrin Dynamin II Endocytosis Molecular Sequence Data Mammary Glands, Human
View on PubMed DOI

Semi-supervised Learning Predicts Approximately One Third of the Alternative Splicing Isoforms as Functional Proteins.

Cell reports Jul 2, 2015
Alternative splicing acts on transcripts from almost all human multi-exon genes. Notwithstanding its ubiquity, fundamental ramifications of splicing on protein expression remain unresolved. The number and identity of spliced transcripts that form sta...
Protein Structure, Tertiary Exons Area Under Curve Humans Supervised Machine Learning Protein Isoforms ROC Curve Proteins Alternative Splicing
View on PubMed DOI

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...
RNA Splicing Models, Genetic RNA Splice Sites Exons Introns Nuclear Proteins Child Development Disorders, Pervasive Genetic Code Adaptor Proteins, Signal Transducing Colorectal Neoplasms, Hereditary Nonpolyposis Genome-Wide Association Study Mutation, Missense DNA Genetic Variation MutL Protein Homolog 1 Muscular Atrophy, Spinal Humans Molecular Sequence Annotation Polymorphism, Single Nucleotide Genetic Markers Quantitative Trait Loci RNA-Binding Proteins Artificial Intelligence Computer Simulation
View on PubMed DOI

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...
Humans Neural Networks, Computer Introns Algorithms Deep Learning RNA Splicing Exons Computational Biology RNA, Messenger RNA Splice Sites Gene Expression
View on PubMed DOI

SVPath: an accurate pipeline for predicting the pathogenicity of human exon structural variants.

Briefings in bioinformatics Mar 10, 2022
Although there are a large number of structural variations in the chromosomes of each individual, there is a lack of more accurate methods for identifying clinical pathogenic variants. Here, we proposed SVPath, a machine learning-based method to pred...
Machine Learning Virulence Polymorphism, Single Nucleotide Humans Molecular Sequence Annotation Exons
View on PubMed DOI

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...
Sequence Analysis RNA Splicing Exons Software Oligonucleotides, Antisense Machine Learning Internet Introns Databases, Nucleic Acid
View on PubMed DOI

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...
Deep Learning Genome-Wide Association Study Mice Genetic Predisposition to Disease Humans Computer Simulation Animals Alzheimer Disease High-Throughput Screening Assays Genome, Human RNA Splicing Polymorphism, Single Nucleotide RNA, Messenger Disease Models, Animal Exons Phospholipase C gamma
View on PubMed DOI

DL-CNV: A deep learning method for identifying copy number variations based on next generation target sequencing.

Mathematical biosciences and engineering : MBE Sep 30, 2019
Copy number variations (CNVs) play an important role in many types of cancer. With the rapid development of next generation sequencing (NGS) techniques, many methods for detecting CNVs of a single sample have emerged: (i) require genome-wide data of ...
High-Throughput Nucleotide Sequencing In Situ Hybridization, Fluorescence Receptor, ErbB-2 Exons Proto-Oncogene Proteins c-met Genome, Human False Positive Reactions Carcinoma, Non-Small-Cell Lung DNA Copy Number Variations Area Under Curve Genome-Wide Association Study ROC Curve Lung Neoplasms Humans Algorithms Sensitivity and Specificity Deep Learning Databases, Factual Reproducibility of Results
View on PubMed DOI
Popular Topics
Recent Journals