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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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983596/
https://www.ncbi.nlm.nih.gov/pubmed/33432195
http://dx.doi.org/10.1038/s41593-020-00765-6