AI Medical Compendium Topic

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Alternative Splicing

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DIFFUSE: predicting isoform functions from sequences and expression profiles via deep learning.

Bioinformatics (Oxford, England)
MOTIVATION: Alternative splicing generates multiple isoforms from a single gene, greatly increasing the functional diversity of a genome. Although gene functions have been well studied, little is known about the specific functions of isoforms, making...

Enhancing Top-Down Proteomics Data Analysis by Combining Deconvolution Results through a Machine Learning Strategy.

Journal of the American Society for Mass Spectrometry
Top-down mass spectrometry (MS) is a powerful tool for the identification and comprehensive characterization of proteoforms arising from alternative splicing, sequence variation, and post-translational modifications. However, the complex data set gen...

A network-based computational framework to predict and differentiate functions for gene isoforms using exon-level expression data.

Methods (San Diego, Calif.)
MOTIVATION: Alternative splicing makes significant contributions to functional diversity of transcripts and proteins. Many alternatively spliced gene isoforms have been shown to perform specific biological functions under different contexts. In addit...

Alternative splicing associated with cancer stemness in kidney renal clear cell carcinoma.

BMC cancer
BACKGROUD: Cancer stemness is associated with metastases in kidney renal clear cell carcinoma (KIRC) and negatively correlates with immune infiltrates. Recent stemness evaluation methods based on the absolute expression have been proposed to reveal t...

PIC-Me: paralogs and isoforms classifier based on machine-learning approaches.

BMC bioinformatics
BACKGROUND: Paralogs formed through gene duplication and isoforms formed through alternative splicing have been important processes for increasing protein diversity and maintaining cellular homeostasis. Despite their recognized importance and the adv...

Using machine learning to detect the differential usage of novel gene isoforms.

BMC bioinformatics
BACKGROUND: Differential isoform usage is an important driver of inter-individual phenotypic diversity and is linked to various diseases and traits. However, accurately detecting the differential usage of different gene transcripts between groups can...

lncRNAfunc: a knowledgebase of lncRNA function in human cancer.

Nucleic acids research
The long non-coding RNAs associating with other molecules can coordinate several physiological processes and their dysfunction can impact diverse human diseases. To date, systematic and intensive annotations on diverse interaction regulations of lncR...

PRECOGx: exploring GPCR signaling mechanisms with deep protein representations.

Nucleic acids research
In this study we show that protein language models can encode structural and functional information of GPCR sequences that can be used to predict their signaling and functional repertoire. We used the ESM1b protein embeddings as features and the bind...

DeepIII: Predicting Isoform-Isoform Interactions by Deep Neural Networks and Data Fusion.

IEEE/ACM transactions on computational biology and bioinformatics
Alternative splicing enables a gene translating into different isoforms and into the corresponding proteoforms, which actually accomplish various biological functions of a living body. Isoform-isoform interactions (IIIs) provide a higher resolution i...

DeepIDA: Predicting Isoform-Disease Associations by Data Fusion and Deep Neural Networks.

IEEE/ACM transactions on computational biology and bioinformatics
Alternative splicing produces different isoforms from the same gene locus, it is an important mechanism for regulating gene expression and proteome diversity. Although the prediction of gene(ncRNA)-disease associations has been extensively studied, f...