Alternative cleavage and polyadenylation in health and disease

AJ Gruber, M Zavolan - Nature Reviews Genetics, 2019 - nature.com
Most human genes have multiple sites at which RNA 3ʹ end cleavage and polyadenylation
can occur, enabling the expression of distinct transcript isoforms under different conditions …

Towards a complete map of the human long non-coding RNA transcriptome

B Uszczynska-Ratajczak, J Lagarde… - Nature Reviews …, 2018 - nature.com
Gene maps, or annotations, enable us to navigate the functional landscape of our genome.
They are a resource upon which virtually all studies depend, from single-gene to genome …

High-throughput RNA isoform sequencing using programmed cDNA concatenation

AM Al'Khafaji, JT Smith, KV Garimella, M Babadi… - Nature …, 2024 - nature.com
Full-length RNA-sequencing methods using long-read technologies can capture complete
transcript isoforms, but their throughput is limited. We introduce multiplexed arrays isoform …

Scater: pre-processing, quality control, normalization and visualization of single-cell RNA-seq data in R

DJ McCarthy, KR Campbell, ATL Lun, QF Wills - Bioinformatics, 2017 - academic.oup.com
Motivation Single-cell RNA sequencing (scRNA-seq) is increasingly used to study gene
expression at the level of individual cells. However, preparing raw sequence data for further …

Differential analyses for RNA-seq: transcript-level estimates improve gene-level inferences

C Soneson, MI Love, MD Robinson - F1000Research, 2016 - pmc.ncbi.nlm.nih.gov
High-throughput sequencing of cDNA (RNA-seq) is used extensively to characterize the
transcriptome of cells. Many transcriptomic studies aim at comparing either abundance …

Evolution to the rescue: using comparative genomics to understand long non-coding RNAs

I Ulitsky - Nature Reviews Genetics, 2016 - nature.com
Long non-coding RNAs (lncRNAs) have emerged in recent years as major players in a
multitude of pathways across species, but it remains challenging to understand which of …

Systematic evaluation of differential splicing tools for RNA-seq studies

A Mehmood, A Laiho, MS Venäläinen… - Briefings in …, 2020 - academic.oup.com
Differential splicing (DS) is a post-transcriptional biological process with critical, wide-
ranging effects on a plethora of cellular activities and disease processes. To date, a number …

A high quality Arabidopsis transcriptome for accurate transcript-level analysis of alternative splicing

R Zhang, CPG Calixto, Y Marquez… - Nucleic acids …, 2017 - academic.oup.com
Alternative splicing generates multiple transcript and protein isoforms from the same gene
and thus is important in gene expression regulation. To date, RNA-sequencing (RNA-seq) is …

[HTML][HTML] Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing

W Jiang, L Chen - Computational and structural biotechnology journal, 2021 - Elsevier
Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by
allowing one gene to generate multiple distinct protein isoforms. It adds another regulation …

Evaluation and comparison of computational tools for RNA-seq isoform quantification

C Zhang, B Zhang, LL Lin, S Zhao - BMC genomics, 2017 - Springer
Background Alternatively spliced transcript isoforms are commonly observed in higher
eukaryotes. The expression levels of these isoforms are key for understanding normal …