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 …

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

Background Genomic variants which disrupt splicing are a major cause of rare genetic
diseases. However, variants which lie outside of the canonical splice sites are difficult to …

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 …

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

Transcriptome complexity and its relation to numerous diseases underpins the need to
predict in silico splice variants and the regulatory elements that affect them. Building upon …

Accurate interpretation of genomic variants that alter RNA splicing is critical to precision
medicine. We present a computational framework, Prediction of variant Effect on Percent …

Abstract It is estimated that 10%–30% of disease-associated genetic variants affect splicing.
Splicing variants may generate deleteriously altered gene product and are potential …

Alternative splicing plays a crucial role in protein diversity and gene expression regulation in
higher eukaryotes and mutations causing dysregulated splicing underlie a range of genetic …