Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …

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

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 study of tumour-specific antigens (TSAs) as targets for antitumour therapies has
accelerated within the past decade. The most commonly studied class of TSAs are those …

Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …

In silico tools have been developed to predict variants that may have an impact on pre-
mRNA splicing. The major limitation of the application of these tools to basic research and …

INTRODUCTION Advancing whole-genome precision medicine requires understanding how
gene expression is altered by genetic variants, especially those that are far outside of …

For the past decade, cancer genomic studies have focused on mutations leading to splice-
site disruption, overlooking those having splice-creating potential. Here, we applied a …

Saturation mutagenesis,—coupled to an appropriate biological assay—represents a
fundamental means of achieving a high-resolution understanding of regulatory and protein …

Recent advances in neoantigen research have accelerated the development and regulatory
approval of tumor immunotherapies, including cancer vaccines, adoptive cell therapy and …