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.
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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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