Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

Most approaches to transcript quantification rely on fixed reference annotations; however,
the transcriptome is dynamic and depending on the context, such static annotations contain …

We perform a thorough analysis of RNA velocity methods, with a view towards
understanding the suitability of the various assumptions underlying popular …

Long-read sequencing (LRS) technologies have provided extremely powerful tools to
explore genomes. While in the early years these methods suffered technical limitations, they …

Single-cell nanopore sequencing of full-length mRNAs transforms single-cell multi-omics
studies. However, challenges include high sequencing errors and dependence on short …

Alternative splicing (AS) is pervasive in mammalian genomes, yet cross-species
comparisons have been largely restricted to adult tissues and the functionality of most AS …

The application of single-cell RNA sequencing (scRNA-seq) in biomedical research has
advanced our understanding of the pathogenesis of disease and provided valuable insights …

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 …

Venetoclax (VEN) inhibits the prosurvival protein BCL2 to induce apoptosis and is a
standard therapy for chronic lymphocytic leukemia (CLL), delivering high complete …