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 …

Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …

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 …

Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we
develop an efficient and reproducible pipeline for the discovery of genetic variants that affect …

Predicting the effects of genetic variants on splicing is highly relevant for human genetics.
We describe the framework MMSplice (modular modeling of splicing) with which we built the …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

Interpreting the molecular mechanism of genomic variations and their causal relationship
with diseases/traits are important and challenging problems in the human genetic study. To …

Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic
branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 …

A critical challenge in genetic diagnostics is the computational assessment of candidate
splice variants, specifically the interpretation of nucleotide changes located outside of the …

Background At least 50% of patients with suspected Mendelian disorders remain
undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding …