Nature Communications (Oct 2018)
High prevalence of focal and multi-focal somatic genetic variants in the human brain
- Michael J. Keogh,
- Wei Wei,
- Juvid Aryaman,
- Lauren Walker,
- Jelle van den Ameele,
- Jon Coxhead,
- Ian Wilson,
- Matthew Bashton,
- Jon Beck,
- John West,
- Richard Chen,
- Christian Haudenschild,
- Gabor Bartha,
- Shujun Luo,
- Chris M. Morris,
- Nick S. Jones,
- Johannes Attems,
- Patrick F. Chinnery
Affiliations
- Michael J. Keogh
- Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus
- Wei Wei
- Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus
- Juvid Aryaman
- Department of Mathematics, Imperial College London
- Lauren Walker
- Institute of Neuroscience, Newcastle University, Campus for Aging and Vitality
- Jelle van den Ameele
- Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus
- Jon Coxhead
- Institute of Genetic Medicine, Central Parkway, Newcastle University
- Ian Wilson
- Institute of Genetic Medicine, Central Parkway, Newcastle University
- Matthew Bashton
- Wolfson Childhood Cancer Research Centre, Northern Institute for Cancer Research, Newcastle University
- Jon Beck
- Personalis Inc
- John West
- Personalis Inc
- Richard Chen
- Personalis Inc
- Christian Haudenschild
- Personalis Inc
- Gabor Bartha
- Personalis Inc
- Shujun Luo
- Personalis Inc
- Chris M. Morris
- Institute of Neuroscience, Newcastle University, Campus for Aging and Vitality
- Nick S. Jones
- Department of Mathematics, Imperial College London
- Johannes Attems
- Institute of Neuroscience, Newcastle University, Campus for Aging and Vitality
- Patrick F. Chinnery
- Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus
- DOI
- https://doi.org/10.1038/s41467-018-06331-w
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 12
Abstract
Similar to cancers, somatic mutations might lead to neurodegenerative diseases. Here, the authors perform ultra-deep sequencing of 102 genes in 173 adult human brains, detect somatic mutations in 54 brains, and develop a mathematical model to estimate the frequency of mutated foci in human brains.
