Article
The Contribution of Mosaic Variants to Autism Spectrum Disorder.
PLoS genetics - 1 Sept 2016
Freed Donald, Pevsner Jonathan
Abstract excerpt
De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired samples and analysis of de novo variants from whole-exome sequencing of 2,388 families. While we find little evidence for tissue-specific mosaic mutation, multi-tissue post-zygotic mutation (i.e. mosaicism) is...
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