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 …

A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

An average shotgun proteomics experiment detects approximately 10,000 human proteins
from a single sample. However, individual proteins are typically identified by peptide …

Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Covalently closed, single-stranded circular RNAs can be produced from viral RNA genomes
as well as from the processing of cellular housekeeping noncoding RNAs and precursor …

The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …

The aim of the UniProt Knowledgebase is to provide users with a comprehensive, high-
quality and freely accessible set of protein sequences annotated with functional information …

While the processing of mRNA is essential for gene expression, recent findings have
highlighted that RNA processing is systematically altered in cancer. Mutations in RNA …

Computational trajectory inference enables the reconstruction of cell state dynamics from
single-cell RNA sequencing experiments. However, trajectory inference requires that the …