High prevalence of focal and multi-focal somatic genetic variants in the human brain

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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2018-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-06331-w