DIVERS manuscirpt was completed, and DIVERS webserver & GitHub were launched.
Jan 2025:
A rare homozygous deep intronic variant of OAS1 in a child with multisystem inflammatory syndrome (MIS-C) was identified in our own database, and its impact on splicing was experimentally validated.
Sep 2024:
DIVERS was further developed and applied to study human population variants from the gnomAD database, rare germline pathogenic variants from the HGMD database, common germline variants from the GWAS-catalog database, and somatic variants from the COSMIC database; followed by deep analyses.
Apr 2024:
DIVERS prototype was completed.
Jul 2023:
The idea of exploring deep intronic regions emerged during the development of BPHunter and AGAIN projects, which focused on the proximal 3′ ends of introns. I became particularly interested in the mechanism of recursive splicing and the impact of deep intronic variants that disrupt this process.