RT Journal Article
SR Electronic
T1 Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 653527
DO 10.1101/653527
A1 Hannah Manning
A1 Brian J. O’Roak
A1 Özgün Babur
YR 2019
UL http://biorxiv.org/content/early/2019/05/30/653527.abstract
AB Mutual exclusivity analysis of genomic mutations has proven useful for detecting driver alterations in cancer patient cohorts. Here we demonstrate, for the first time, that this pattern is also present among de novo mutations in autism spectrum disorder. We analyzed three large whole genome sequencing studies and identified mutual exclusivity patterns within the most confident set of autism-related genes, as well as in the circadian clock and PI3K/AKT signaling pathways.