The high‐throughput sequencing of cellular RNAs has underscored a broad effect of isoform
diversification through alternative splicing on the transcriptome. Moreover, the differential …

Annotating newly sequenced genomes and determining alternative isoforms from long-read
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …

Aberrant splicing underlies many human diseases, including cancer, cardiovascular
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …

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 …

Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by
lifelong cognitive impairments and the development of the neuropathological hallmarks of …

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 …

Abstract Single-molecule Real-time Isoform Sequencing (Iso-seq) of transcriptomes by
PacBio can generate very long and accurate reads, thus providing an ideal platform for full …

Increasing evidence suggests that alternative splicing plays an important role in Alzheimer's
disease (AD) pathology. We used long-read sequencing in combination with a novel …

Background Long read sequencing allows the analysis of full-length transcripts in plants
without the challenges of reliable transcriptome assembly. Long read sequencing of …

Accurate quantification and detection of intron retention levels require specialized software.
Building on our previous software, we create a suite of tools called IRFinder-S, to analyze …