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Alternative Splicing

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

Cell reports
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...

Complementary feature selection from alternative splicing events and gene expression for phenotype prediction.

Bioinformatics (Oxford, England)
MOTIVATION: A central task of bioinformatics is to develop sensitive and specific means of providing medical prognoses from biomarker patterns. Common methods to predict phenotypes in RNA-Seq datasets utilize machine learning algorithms trained via g...

Deep learning of the splicing (epi)genetic code reveals a novel candidate mechanism linking histone modifications to ESC fate decision.

Nucleic acids research
Alternative splicing (AS) is a genetically and epigenetically regulated pre-mRNA processing to increase transcriptome and proteome diversity. Comprehensively decoding these regulatory mechanisms holds promise in getting deeper insights into a variety...

Biological classification with RNA-seq data: Can alternatively spliced transcript expression enhance machine learning classifiers?

RNA (New York, N.Y.)
RNA sequencing (RNA-seq) is becoming a prevalent approach to quantify gene expression and is expected to gain better insights into a number of biological and biomedical questions compared to DNA microarrays. Most importantly, RNA-seq allows us to qua...

COSSMO: predicting competitive alternative splice site selection using deep learning.

Bioinformatics (Oxford, England)
MOTIVATION: Alternative splice site selection is inherently competitive and the probability of a given splice site to be used also depends on the strength of neighboring sites. Here, we present a new model named the competitive splice site model (COS...

PathwaySplice: an R package for unbiased pathway analysis of alternative splicing in RNA-Seq data.

Bioinformatics (Oxford, England)
SUMMARY: Pathway analysis of alternative splicing would be biased without accounting for the different number of exons or junctions associated with each gene, because genes with higher number of exons or junctions are more likely to be included in th...

DeepM6ASeq: prediction and characterization of m6A-containing sequences using deep learning.

BMC bioinformatics
BACKGROUND: N6-methyladensine (m6A) is a common and abundant RNA methylation modification found in various species. As a type of post-transcriptional methylation, m6A plays an important role in diverse RNA activities such as alternative splicing, an ...

Deep-learning augmented RNA-seq analysis of transcript splicing.

Nature methods
A major limitation of RNA sequencing (RNA-seq) analysis of alternative splicing is its reliance on high sequencing coverage. We report DARTS (https://github.com/Xinglab/DARTS), a computational framework that integrates deep-learning-based predictions...

MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.

Genome biology
Predicting the effects of genetic variants on splicing is highly relevant for human genetics. We describe the framework MMSplice (modular modeling of splicing) with which we built the winning model of the CAGI5 exon skipping prediction challenge. The...

Deep Splicing Code: Classifying Alternative Splicing Events Using Deep Learning.

Genes
Alternative splicing (AS) is the process of combining different parts of the pre-mRNA to produce diverse transcripts and eventually different protein products from a single gene. In computational biology field, researchers try to understand AS behavi...