Article

The Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral Cortex

2020-02-12

Abstract excerpt

Although somatic mutations have well-established roles in cancer and certain focal epilepsies, the extent to which mutational mosaicism shapes the developing human brain is poorly understood. Here we characterize the landscape of somatic mutations in the human brain using ultra-deep (~250×) whole-genome sequencing of brains from 59 autism spectrum disorder (ASD) cases and 15 controls. We observe a mean of 26 (±10,...

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Literature Corpus work: f9167bf0-31c2-568c-bfdd-b6c4cb4a2b0c
DOI: 10.1101/2020.02.11.944413

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