A critical challenge in genetic diagnostics is the assessment of genetic variants associated
with diseases, specifically variants that fall out with canonical splice sites, by altering …

Mutations that cause an error in the splicing of a messenger RNA (mRNA) can lead to
diseases in humans. Various computational models have been developed to recognize the …

Modeling splicing is essential for tackling the challenge of variant interpretation as each
nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via …

Alternative splicing (AS) is a crucial process to enhance gene expression driving organism
development. Interestingly, more than 95% of human genes undergo AS, producing multiple …

Background It is estimated that up to 50% of all disease causing variants disrupt splicing.
Due to its complexity, our ability to predict which variants disrupt splicing is limited, meaning …

Assessing the impact of variants of unknown significance on splicing has become a critical
issue and a bottleneck, especially with the widespread implementation of whole‐genome or …

Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

A proportion of previously defined benign variants or variants of uncertain significance in
humans, which are challenging to identify, may induce an abnormal splicing process. An …

Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …

Predicting the impact of coding and noncoding variants on splicing is challenging,
particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing …