Genome-wide detection of human variants that disrupt intronic branchpoints
Pre-mRNA splicing, as a necessary step for protein-coding gene expression in eukaryotic cells, operates spliceosome mostly within introns to define the exon-intron boundaries and hence the coding sequences.
Intronic branchpoint (BP) is recognized by the spliceosome in the beginning of splicing, and constitutes a vulnerability of splicing by its potential variants. BP variants may potentially result in aberrant splicing (exon skipping, intron retention), which could be deleterious to gene produdcts.
BPHunter is a genome-wide approach to systematically detect intronic variants that may disrupt BP recognition, efficiently and informatively.