We further showed two case studies of genes STAT1 and IRF7, that AG-gain variants inside the high-risk region led to misspliced products, whilst the ones outside the region did not.
Feb 2023:
AGAIN webserver & GitHub was launched.
Dec 2022:
A germline homozygous intronic AG-gain variant was detected in the known anti-mycobacterial gene SPPL2A in a patient with mycobacterial disease, and experimentally validated.
Sep 2022:
AGAIN prototype was completed.
Jan 2022:
Inspired by BPHunter study, AGAIN idea was conceived.