| Human transcripts with long introns can undergo recursive splicing (RS) - a stepwise splicing mechanism that seamlessly removes long intronic sequences by segmenting them into smaller fragments. |
| Deep intronic variants that disrupt RS could alter splicing, leading to intronic retentions with/without frameshifts and premature stops, thus resulting in deleterious and potentially pathogenic gene products, contributing to human diseases and traits. |
| DIVERS is a genome-wide computational method to systematically detect and interpret deep intronic variants that may impact RS. DIVERS identifies five types of RS-variants: "RS_AGGT_loss", "RS_BP_loss", "RS_3SS_gain", "RS_5SS_gain", and "RS_CRYP". |
| Reference: Zhang P. et al. Genome-wide detection of human deep intronic variants that affect recursive splicing. 2025. |