AI Medical Compendium Topic

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Alternative Splicing

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IsoFrog: a reversible jump Markov Chain Monte Carlo feature selection-based method for predicting isoform functions.

Bioinformatics (Oxford, England)
MOTIVATION: A single gene may yield several isoforms with different functions through alternative splicing. Continuous efforts are devoted to developing machine-learning methods to predict isoform functions. However, existing methods do not consider ...

Deep learning structural insights into heterotrimeric alternatively spliced P2X7 receptors.

Purinergic signalling
P2X7 receptors (P2X7Rs) are membrane-bound ATP-gated ion channels that are composed of three subunits. Different subunit structures may be expressed due to alternative splicing of the P2RX7 gene, altering the receptor's function when combined with th...

Development and validation of AI/ML derived splice-switching oligonucleotides.

Molecular systems biology
Splice-switching oligonucleotides (SSOs) are antisense compounds that act directly on pre-mRNA to modulate alternative splicing (AS). This study demonstrates the value that artificial intelligence/machine learning (AI/ML) provides for the identificat...

Study of prognostic splicing factors in cancer using machine learning approaches.

Human molecular genetics
Splicing factors (SFs) are the major RNA-binding proteins (RBPs) and key molecules that regulate the splicing of mRNA molecules through binding to mRNAs. The expression of splicing factors is frequently deregulated in different cancer types, causing ...

Predicting splicing patterns from the transcription factor binding sites in the promoter with deep learning.

BMC genomics
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 ...

AGML: Adaptive Graph-Based Multi-Label Learning for Prediction of RBP and as Event Associations During EMT.

IEEE/ACM transactions on computational biology and bioinformatics
Increasing evidence has indicated that RNA-binding proteins (RBPs) play an essential role in mediating alternative splicing (AS) events during epithelial-mesenchymal transition (EMT). However, due to the substantial cost and complexity of biological ...

MCTASmRNA: A deep learning framework for alternative splicing events classification.

International journal of biological macromolecules
Alternative splicing (AS) plays crucial post-transcriptional gene function regulation roles in eukaryotic. Despite progress in studying AS at the RNA level, existing methods for AS event identification face challenges such as inefficiency, lengthy pr...

Machine learning-optimized targeted detection of alternative splicing.

Nucleic acids research
RNA sequencing (RNA-seq) is widely adopted for transcriptome analysis but has inherent biases that hinder the comprehensive detection and quantification of alternative splicing. To address this, we present an efficient targeted RNA-seq method that gr...

ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures.

Nucleic acids research
Alternative splicing is a crucial cellular process in eukaryotes, enabling the generation of multiple protein isoforms with diverse functions from a single gene. To better understand the impact of alternative splicing on protein structures, protein-p...

ASVirus: A Comprehensive Knowledgebase for the Viral Alternative Splicing.

Journal of chemical information and modeling
Viruses are significant human pathogens responsible for pandemic outbreaks and seasonal epidemics. Viral infectious diseases impose a devastating global burden and have a profound impact on public health systems. During viral infections, alternative ...