Steering research on mRNA splicing in cancer towards clinical translation

O Anczukow, FHT Allain, BL Angarola, DL Black… - Nature Reviews …, 2024 - nature.com
Splicing factors are affected by recurrent somatic mutations and copy number variations in
several types of haematologic and solid malignancies, which is often seen as prima facie …

Uncovering the impacts of alternative splicing on the proteome with current omics techniques

M Reixachs‐Solé, E Eyras - Wiley Interdisciplinary Reviews …, 2022 - Wiley Online Library
The high‐throughput sequencing of cellular RNAs has underscored a broad effect of isoform
diversification through alternative splicing on the transcriptome. Moreover, the differential …

Accurate isoform discovery with IsoQuant using long reads

AD Prjibelski, A Mikheenko, A Joglekar… - Nature …, 2023 - nature.com
Annotating newly sequenced genomes and determining alternative isoforms from long-read
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …

SQANTI3: curation of long-read transcriptomes for accurate identification of known and novel isoforms

FJ Pardo-Palacios, A Arzalluz-Luque, L Kondratova… - Nature …, 2024 - nature.com
SQANTI3 is a tool designed for the quality control, curation and annotation of long-read
transcript models obtained with third-generation sequencing technologies. Leveraging its …

Altered cell and RNA isoform diversity in aging Down syndrome brains

CR Palmer, CS Liu, WJ Romanow… - Proceedings of the …, 2021 - National Acad Sciences
Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by
lifelong cognitive impairments and the development of the neuropathological hallmarks of …

Monitoring the 5′ UTR landscape reveals isoform switches to drive translational efficiencies in cancer

R Weber, U Ghoshdastider, D Spies, C Duré… - Oncogene, 2023 - nature.com
Transcriptional and translational control are key determinants of gene expression, however,
to what extent these two processes can be collectively coordinated is still poorly understood …

Long read sequencing to reveal the full complexity of a plant transcriptome by targeting both standard and long workflows

O Al-Dossary, A Furtado, A KharabianMasouleh… - Plant Methods, 2023 - Springer
Background Long read sequencing allows the analysis of full-length transcripts in plants
without the challenges of reliable transcriptome assembly. Long read sequencing of …

Long-read subcellular fractionation and sequencing reveals the translational fate of full-length mRNA isoforms during neuronal differentiation

AJ Ritter, JM Draper, C Vollmers… - Genome Research, 2024 - genome.cshlp.org
Alternative splicing (AS) alters the cis-regulatory landscape of mRNA isoforms, leading to
transcripts with distinct localization, stability, and translational efficiency. To rigorously …