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