Article
Frequency and signature of somatic variants in 1461 human brain exomes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Wei Wei, Keogh Michael J, Aryaman Juvid, Golder Zoe, Kullar Peter J, Wilson Ian, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Sarraj Safa Al, Morris Chris M, Ansorge Olaf, Jones Nick S, Ironside James W, Chinnery Patrick F
Abstract excerpt
PURPOSE: To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders. METHODS: In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by...
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