Several macromolecular machines collaborate to produce eukaryotic messenger RNA. RNA
polymerase II (Pol II) translocates along genes that are up to millions of base pairs in length …

Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …

Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

Pseudouridine is a modified nucleotide that is prevalent in human mRNAs and is
dynamically regulated. Here, we investigate when in their life cycle mRNAs become …

Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …

Genomic analyses of cancer have identified recurrent point mutations in the RNA splicing
factor–encoding genes SF3B1, U2AF1, and SRSF2 that confer an alteration of function …

Recurrent mutations in the spliceosome are observed in several human cancers, but their
functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated …

Hotspot mutations in the spliceosome gene SF3B1 are reported in∼ 20% of uveal
melanomas. SF3B1 is involved in 3′-splice site (3′ ss) recognition during RNA splicing; …

Background A critical step in uncovering rules of RNA processing is to study the in vivo
regulatory networks of RNA binding proteins (RBPs). Crosslinking and immunoprecipitation …

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …