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Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green open access

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Abstract

The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.

Type: Article
Title: Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/hmg/ddu203
Publisher version: http://dx.doi.org/10.1093/hmg/ddu203
Additional information: © The Author 2014. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/ .0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1430038
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