Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

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

Rachel E. Rodin, Yanmei Dou, Minseok Kwon, Maxwell A. Sherman, Alissa M. D’Gama, Ryan N. Doan, Lariza M. Rento, Kelly M. Girskis, Craig L. Bohrson, Sonia N. Kim, Ajay Nadig, Lovelace J. Luquette, D. Gulhan, Brain Somatic Mosaicism Network, Christopher A. Walsh, Javier Ganz, Mollie B. Woodworth, Pengpeng Li, Rachel E. Rodin, Robert Hill, Sara Bizzotto, Zinan Zhou, Eunjung A. Lee, Alison R. Barton, Alissa M. D’Gama, Alon Galor, Craig L. Bohrson, Daniel H. Kwon, D. Gulhan, Elaine T. Lim, Isidro Cortes, Lovelace J. Luquette, Maxwell A. Sherman, Michael E. Coulter, Michael A. Lodato, Peter J. Park, Rebeca B. Monroy, Sonia N. Kim, Yanmei Dou, Andrew Chess, Attila Gulyás-Kovács, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Jonathan Pevsner, Soonweng Cho, Andrew E. Jaffe, Apuã C.M. Paquola, Daniel R. Weinberger, Jennifer A. Erwin, Jooheon Shin, Richard E. Straub, Rujuta Narurkar, Alexej Abyzov, Taejeong Bae, Anjené Addington, David M. Panchision, Doug Meinecke, Geetha Senthil, Lora Bingaman, Tara Dutka, Thomas Lehner, Laura Saucedo-Cuevas, Tara Conniff, Kenneth Daily, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alex E. Urban, Bo Zhou, Xiaowei Zhu, Aitor Serres, David Juan, Inna Povolotskaya, Irene Lobón, Manuel Solís-Moruno, Raquel García-Pérez, Tomàs Marquès‐Bonet, Gary W. Mathern, Jing Gu, Joseph G. Gleeson, Laurel Ball, Renee D. George, Tiziano Pramparo, Diane A. Flasch, Trenton J. Frisbie, Jeffrey M. Kidd, John B. Moldovan, John V. Moran, Kenneth Y. Kwan, Ryan E. Mills, Sarah B. Emery, Weichen Zhou, Yifan Wang, Aakrosh Ratan, Michael J. McConnell, Flora M. Vaccarino

Nature Neuroscience · 2021

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Summary

This study employed ultra-deep whole-genome sequencing to map somatic mutations present in the cerebral cortex of autistic and neurotypical individuals. As suggested by the title and journal scope, the research aimed to characterise whether mutation burden or patterns in neural tissue differ between the two groups, potentially illuminating early developmental or post-zygotic genetic contributors to autism. The findings contribute to understanding the role of somatic mosaicism in neurodevelopmental conditions.

Regional applicability

This is a laboratory-based neurogenomic study conducted in the United States with no direct application to United Kingdom farming, soil health or agricultural practice. The research does not address food systems, nutrition via farming approaches, or dietary interventions.

Key measures

Somatic mutation frequency, mutation types, spatial distribution within cerebral cortex, clonal expansion patterns detected via ultra-deep whole-genome sequencing

Outcomes reported

The study characterised the landscape of somatic mutations in cerebral cortex tissue from autistic and neurotypical individuals using ultra-deep whole-genome sequencing. It compared mutation burden, types and distribution patterns between the two groups.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Comparative observational study
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Laboratory / in vitro
DOI
10.1038/s41593-020-00765-6
Catalogue ID
SNmp6e739j-ptldte

Topic tags

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