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

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

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 …

Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the
advent of next-generation sequencing, allowing a deeper insight into a patient's variant …

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 …

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 …

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

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 …

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 …

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 …