PT  - JOURNAL ARTICLE
AU  - Hannah Manning
AU  - Brian J. O’Roak
AU  - Özgün Babur
TI  - Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways
AID  - 10.1101/653527
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 653527
4099  - http://biorxiv.org/content/early/2019/05/30/653527.short
4100  - http://biorxiv.org/content/early/2019/05/30/653527.full
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.