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Article

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Nature neuroscience - 1 Feb 2021

Rodin Rachel E, Dou Yanmei, Kwon Minseok, Sherman Maxwell A, D'Gama Alissa M, Doan Ryan N, Rento Lariza M, Girskis Kelly M, Bohrson Craig L, Kim Sonia N, Nadig Ajay, Luquette Lovelace J, Gulhan Doga C, Park Peter J, Walsh Christopher A

Abstract excerpt

We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. We observe a mean of 26 somatic single-nucleotide variants per brain present in ≥4% of cells, with enrichment of mutations in coding and putative regulatory...

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Identifiers

PMID: 33432195
DOI: 10.1038/s41593-020-00765-6
PMCID: PMC7983596

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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