Article
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proceedings of the National Academy of Sciences of the United States of America - 14 Nov 2023
Zhang Peng, Chaldebas Matthieu, Ogishi Masato, Al Qureshah Fahd, Ponsin Khoren, Feng Yi, Rinchai Darawan, Milisavljevic Baptiste, Han Ji Eun, Moncada-Vélez Marcela, Keles Sevgi, Schröder Bernd, Stenson Peter D, Cooper David N, Cobat Aurélie, Boisson Bertrand, Zhang Qian, Boisson-Dupuis Stéphanie, Abel Laurent, Casanova Jean-Laurent
Abstract excerpt
Human genetic variants that introduce an AG into the intronic region between the branchpoint (BP) and the canonical splice acceptor site (ACC) of protein-coding genes can disrupt pre-mRNA splicing. Using our genome-wide BP database, we delineated the BP-ACC segments of all human introns and found extreme depletion of AG/YAG in the [BP+8, ACC-4] high-risk region. We developed AGAIN as a genome-wide computational...
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