Article
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome research - 1 Jan 2017
Keogh Michael J, Wei Wei, Wilson Ian, Coxhead Jon, Ryan Sarah, Rollinson Sara, Griffin Helen, Kurzawa-Akanbi Marzena, Santibanez-Koref Mauro, Talbot Kevin, Turner Martin R, McKenzie Chris-Anne, Troakes Claire, Attems Johannes, Smith Colin, Al Sarraj Safa, Morris Chris M, Ansorge Olaf, Pickering-Brown Stuart, Ironside James W, Chinnery Patrick F
Abstract excerpt
Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic...
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