[PDF][PDF] SUPPA2 provides fast, accurate, and uncertainty-aware differential splicing analysis across multiple conditions

JL Trincado, JC Entizne, G Hysenaj, B Singh… - Genome …, 2017 - scholar.archive.org
Despite the many approaches to study differential splicing from RNA-seq, many challenges
remain unsolved, including computing capacity and sequencing depth requirements. Here …

Investigating RNA splicing as a source of cellular diversity using a binomial mixture model

K Isaev, DA Knowles - Machine Learning in Computational …, 2024 - proceedings.mlr.press
Alternative splicing (AS) contributes significantly to RNA and protein variability yet its role in
defining cellular diversity is not fully understood. While Smart-seq2 offers enhanced …

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 …

[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 …

Impacts of alternative splicing events on the differentiation of adipocytes

JC Lin - International journal of molecular sciences, 2015 - mdpi.com
Alternative splicing was found to be a common phenomenon after the advent of whole
transcriptome analyses or next generation sequencing. Over 90% of human genes were …

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 …

[HTML][HTML] Alternative splicing and its impact as a cancer diagnostic marker

YJ Kim, HS Kim - Genomics & informatics, 2012 - ncbi.nlm.nih.gov
Most genes are processed by alternative splicing for gene expression, resulting in the
complexity of the transcriptome in eukaryotes. It allows a limited number of genes to encode …

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 …