AIMC Topic: Alternative Splicing

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The alternative splicing landscape of hepatocellular carcinoma and its potential for HCC detection.

Hepatology communications
BACKGROUND: Pre-mRNA alternative splicing contributes to oncogenic gene expression in hepatocellular carcinoma (HCC), and some oncogenic isoforms escape the tumor into circulation. This study aimed to characterize the alternative splicing landscape o...

Predicting the structural impact of human alternative splicing.

Genome biology
BACKGROUND: Protein structure prediction with neural networks is a powerful new method for linking protein sequence, structure, and function, but structures have generally been predicted for only a single isoform of each gene, neglecting splice varia...

Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing.

Nature communications
While altered pre-mRNA splicing is a frequent mechanism by which genetic variants cause disease, the regulatory architecture of human exons remains poorly understood. Antisense oligonucleotides (AONs) that target pre-mRNA splicing have been approved ...

DOLPHIN advances single-cell transcriptomics beyond gene level by leveraging exon and junction reads.

Nature communications
The advent of single-cell sequencing has revolutionized the study of cellular dynamics, providing unprecedented resolution into the molecular states and heterogeneity of individual cells. However, the rich potential of exon-level information and junc...

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 ...

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...

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 ...

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 ...

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...

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...