[HTML][HTML] Thousands of exon skipping events differentiate among splicing patterns in sixteen human tissues

L Florea, L Song, SL Salzberg - F1000Research, 2013 - ncbi.nlm.nih.gov
Alternative splicing is widely recognized for its roles in regulating genes and creating gene
diversity. However, despite many efforts, the repertoire of gene splicing variation is still …

PrimerSeq: design and visualization of RT-PCR primers for alternative splicing using RNA-seq data

C Tokheim, JW Park, Y Xing - Genomics, Proteomics and …, 2014 - academic.oup.com
The vast majority of multi-exon genes in higher eukaryotes are alternatively spliced and
changes in alternative splicing (AS) can impact gene function or cause disease. High …

Expression and splicing mediate distinct biological signals

SH Dam, LR Olsen, K Vitting-Seerup - BMC biology, 2023 - Springer
Background Through alternative splicing, most human genes produce multiple isoforms in a
cell-, tissue-, and disease-specific manner. Numerous studies show that alternative splicing …

[HTML][HTML] Single-cell and long-read sequencing to enhance modelling of splicing and cell-fate determination

S Wu, U Schmitz - Computational and Structural Biotechnology Journal, 2023 - Elsevier
Single-cell sequencing technologies have revolutionised the life sciences and biomedical
research. Single-cell sequencing provides high-resolution data on cell heterogeneity …

Alternative splicing and isoforms: from mechanisms to diseases

Q Liu, L Fang, C Wu - Genes, 2022 - mdpi.com
Alternative splicing of pre-mRNA is a key mechanism for increasing the complexity of
proteins in humans, causing a diversity of expression of transcriptomes and proteomes in a …

The usage of exon-exon splice junctions for the detection of alternative splicing using the REIDS model

M Van Moerbeke, A Kasim, Z Shkedy - Scientific Reports, 2018 - nature.com
Alternative gene splicing is a common phenomenon in which a single gene gives rise to
multiple transcript isoforms. The process is strictly guided and involves a multitude of …

A comprehensive benchmarking of differential splicing tools for RNA-seq analysis at the event level

M Jiang, S Zhang, H Yin, Z Zhuo… - Briefings in …, 2023 - academic.oup.com
RNA alternative splicing, a post-transcriptional stage in eukaryotes, is crucial in cellular
homeostasis and disease processes. Due to the rapid development of the next-generation …

The physiology of alternative splicing

LE Marasco, AR Kornblihtt - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …

[HTML][HTML] Differential splicing analysis based on isoforms expression with NBSplice

GA Merino, EA Fernández - Journal of biomedical informatics, 2020 - Elsevier
Alternative splicing alterations have been widely related to several human diseases
revealing the importance of their study for the success of translational medicine. Differential …

Regulation of alternative splicing at the single‐cell level

L Faigenbloom, ND Rubinstein, Y Kloog… - Molecular Systems …, 2015 - embopress.org
Alternative splicing is a key cellular mechanism for generating distinct isoforms, whose
relative abundances regulate critical cellular processes. It is therefore essential that …