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 …

High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …

The excision of introns from pre-mRNA is an essential step in mRNA processing. We
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …

Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

Oxidative stress and chronic inflammation are known to be associated with the development
of metabolic diseases, including diabetes. Oxidative stress, an imbalance between oxidative …

Oncogenesis often implicates epigenetic alterations, including derepression of transposable
elements (TEs) and defects in alternative splicing. Here, we explore the possibility that …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Here we use deep sequencing to identify sources of variation in mRNA splicing in the
dorsolateral prefrontal cortex (DLPFC) of 450 subjects from two aging cohorts. Hundreds of …