Recent landmark discoveries have underpinned the physiological importance of intron
retention (IR) across multiple domains of life and revealed an unexpected breath of functions …

Dysregulation of alternative splicing has been repeatedly associated with
neurodevelopmental disorders, but the extent of cell-type-specific splicing in human neural …

The emergence of introns was a significant evolutionary leap that is a major distinguishing
feature between prokaryotic and eukaryotic genomes. While historically introns were …

To facilitate selfish replication, viruses halt host gene expression in various ways. The
nuclear export of mRNA is one such process targeted by many viruses. SARS-CoV-2, the …

The mechanistic target of rapamycin complex 1 (mTORC1) is a master regulator of cell
growth that stimulates macromolecule synthesis through transcription, RNA processing, and …

Nuclear RNA binding proteins (RBPs) are difficult to study because they often belong to
large protein families and form extensive networks of auto-and crossregulation. They are …

Background There is growing interest in retained introns in a variety of disease contexts
including cancer and aging. Many software tools have been developed to detect retained …

Alternative splicing (AS) is a crucial mechanism for regulating gene expression and isoform
diversity in eukaryotes. However, the analysis and visualization of AS events from RNA …

Purpose Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental
disorders, caused by pathogenic variants in genes involved in primary cilia formation and …

Alternative splicing is a major contributor to transcriptome and proteome diversity in health
and disease. A plethora of tools have been developed for studying alternative splicing in …