Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

The limitations of genome-wide association (GWA) studies that focus on the phenotypic
influence of common genetic variants have motivated human geneticists to consider the …

Thousands of mutations are identified yearly. Although many directly affect protein
expression, an increasing proportion of mutations is now believed to influence mRNA …

Exonic splicing silencers (ESSs) are cis-regulatory elements that inhibit the use of adjacent
splice sites, often contributing to alternative splicing (AS). To systematically identify ESSs, an …

Proteins of the heterogeneous nuclear ribonucleoparticles (hnRNP) family form a structurally
diverse group of RNA binding proteins implicated in various functions in metazoans. Here …

We have searched for sequence motifs that contribute to the recognition of human pre-
mRNA splice sites by comparing the frequency of 8-mers in internal noncoding exons versus …

Pre-mRNA splicing is an essential step for gene expression in higher eukaryotes. The
splicing efficiency of individual exons is determined by multiple features involving gene …

The SARS-CoV-2 virus is a recently-emerged zoonotic pathogen already well adapted to
transmission and replication in humans. Although the mutation rate is limited, recently …

Antisense oligonucleotides (AONs) can interfere with mRNA processing through RNase H–
mediated degradation, translational arrest, or modulation of splicing. The antisense …

Approximately two‐thirds of Duchenne muscular dystrophy (DMD) patients show intragenic
deletions ranging from one to several exons of the DMD gene and leading to a premature …