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Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways

Hannah Manning, Brian J. O’Roak, Özgün Babur
doi: https://doi.org/10.1101/653527
Hannah Manning
1Computational Biology Program, Oregon Health & Science University, Portland, OR 97239
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Brian J. O’Roak
2Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239
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  • For correspondence: ozgunbabur@gmail.com
Özgün Babur
1Computational Biology Program, Oregon Health & Science University, Portland, OR 97239
2Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239
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ABSTRACT

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.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted May 30, 2019.
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Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways
Hannah Manning, Brian J. O’Roak, Özgün Babur
bioRxiv 653527; doi: https://doi.org/10.1101/653527
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Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways
Hannah Manning, Brian J. O’Roak, Özgün Babur
bioRxiv 653527; doi: https://doi.org/10.1101/653527

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