Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …

The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Translational control of mRNAs during gene expression allows cells to promptly and
dynamically adapt to a variety of stimuli, including in neoplasia in response to aberrant …

Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked,
autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an …

Abstract Genome‐, transcriptome‐and proteome‐wide measurements provide insights into
how biological systems are regulated. However, fundamental aspects relating to which …

Summary mRNA function is influenced by modifications that modulate canonical nucleobase
behavior. We show that a single modification mediates distinct impacts on mRNA translation …

Omics-based technologies have revolutionized our understanding of the coding potential of
the genome. In particular, these studies revealed widespread unannotated open reading …

Functional proteins in the cell are translated from the messenger RNA (mRNA) molecules,
constituting less than 5% of the cellular transcriptome. The majority of the RNA molecules in …

Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …