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 …

Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

High-throughput complementary DNA sequencing technologies have advanced our
understanding of transcriptome complexity and regulation. However, these methods lose …

Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Nonsense-mediated RNA decay (NMD) is a highly conserved RNA turnover pathway that
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …

Disruption of the class I human leukocyte antigen (HLA) molecules has important
implications for immune evasion and tumor evolution. We developed major …

Abstract mRNA surveillance pathways are essential for accurate gene expression and to
maintain translation homeostasis, ensuring the production of fully functional proteins. Future …