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

We characterize the landscape of somatic mutations—mutations occurring after fertilization—in the human brain using ultra-deep (~250X) whole-genome sequencing of prefrontal cortex from 59 autism spectrum disorder (ASD) cases and 15 controls. We observe a mean of 26 somatic single nucleotide variants...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Nat Neurosci
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2021
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7983596/
https://ncbi.nlm.nih.gov/pubmed/33432195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41593-020-00765-6
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