A comprehensive assessment of benign genetic variability for neurodegenerative disorders

Guerreiro, Rita and Sassi, Celeste and Gibbs, Jesse and Edsall, Connor and Hernandez, Dena and Brown, Kristelle and Lupton, Michelle and Parkinnen, Laura and Ansorge, Olaf and Hodges, Angela and Ryten, Mina and Tienari, Pentti and Van Deerlin, Vivanna and Trojanowski, John and Morgan, Kevin and Powell, John and Singleton, Andrew and Hardy, John and Bras, Jose (2018) A comprehensive assessment of benign genetic variability for neurodegenerative disorders. BioRxiv .

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Abstract

Over the last few years, as more and more sequencing studies have been performed, it has become apparent that the identification of pathogenic mutations is, more often than not, a complex issue. Here, with a focus on neurodegenerative diseases, we have performed a survey of coding genetic variability that is unlikely to be pathogenic. We have performed whole-exome sequencing in 478 samples derived from several brain banks in the United Kingdom and the United States of America. Samples were included when subjects were, at death, over 60 years of age, had no signs of neurological disease and were subjected to a neuropathological examination, which revealed no evidence of neurodegeneration. This information will be valuable to studies of genetic variability as a causal factor for neurodegenerative syndromes. We envisage it will be particularly relevant for diagnostic laboratories as a filter step to the results being produced by either genome-wide or gene-panel sequencing. We have made this data publicly available at www.alzforum.org/exomes/hex.

Item Type: Article
Schools/Departments: University of Nottingham, UK > Faculty of Medicine and Health Sciences > School of Life Sciences > School of Molecular Medical Sciences
Identification Number: 10.1101/270686
Depositing User: Eprints, Support
Date Deposited: 22 Mar 2018 11:20
Last Modified: 22 Mar 2018 12:19
URI: http://eprints.nottingham.ac.uk/id/eprint/50595

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