Gene maps, or annotations, enable us to navigate the functional landscape of our genome.
They are a resource upon which virtually all studies depend, from single-gene to genome …

Our understanding of gene expression has changed dramatically over the past decade,
largely catalysed by technological developments. High-throughput experiments …

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

Eukaryotic cells make many types of primary and processed RNAs that are found either in
specific subcellular compartments or throughout the cells. A complete catalogue of these …

How species with similar repertoires of protein-coding genes differ so markedly at the
phenotypic level is poorly understood. By comparing organ transcriptomes from vertebrate …

Understanding the consequences of regulatory variation in the human genome remains a
major challenge, with important implications for understanding gene regulation and …

Alternative splicing is widely recognized for its roles in regulating genes and creating gene
diversity. However, despite many efforts, the repertoire of gene splicing variation is still …

The human genome contains many thousands of long noncoding RNAs (lncRNAs). While
several studies have demonstrated compelling biological and disease roles for individual …

Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we
develop an efficient and reproducible pipeline for the discovery of genetic variants that affect …