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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/4340dcba8f0b45e0b3cd339e05e6fd88
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spelling	oai:doaj.org-article:4340dcba8f0b45e0b3cd339e05e6fd882021-12-02T14:39:07ZHigh prevalence of focal and multi-focal somatic genetic variants in the human brain10.1038/s41467-018-06331-w2041-1723https://doaj.org/article/4340dcba8f0b45e0b3cd339e05e6fd882018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06331-whttps://doaj.org/toc/2041-1723Similar 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.Michael J. KeoghWei WeiJuvid AryamanLauren WalkerJelle van den AmeeleJon CoxheadIan WilsonMatthew BashtonJon BeckJohn WestRichard ChenChristian HaudenschildGabor BarthaShujun LuoChris M. MorrisNick S. JonesJohannes AttemsPatrick F. ChinneryNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 High prevalence of focal and multi-focal somatic genetic variants in the human brain
description	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.
format	article
author	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
author_facet	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
author_sort	Michael J. Keogh
title	High prevalence of focal and multi-focal somatic genetic variants in the human brain
title_short	High prevalence of focal and multi-focal somatic genetic variants in the human brain
title_full	High prevalence of focal and multi-focal somatic genetic variants in the human brain
title_fullStr	High prevalence of focal and multi-focal somatic genetic variants in the human brain
title_full_unstemmed	High prevalence of focal and multi-focal somatic genetic variants in the human brain
title_sort	high prevalence of focal and multi-focal somatic genetic variants in the human brain
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/4340dcba8f0b45e0b3cd339e05e6fd88
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High prevalence of focal and multi-focal somatic genetic variants in the human brain

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