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

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 rev...

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Autores principales: Guerreiro, Rita, Brás, José, Hardy, John, Singleton, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170717/
https://www.ncbi.nlm.nih.gov/pubmed/24794858
http://dx.doi.org/10.1093/hmg/ddu203
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author Guerreiro, Rita
Brás, José
Hardy, John
Singleton, Andrew
author_facet Guerreiro, Rita
Brás, José
Hardy, John
Singleton, Andrew
author_sort Guerreiro, Rita
collection PubMed
description 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.
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spelling pubmed-41707172014-09-22 Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations Guerreiro, Rita Brás, José Hardy, John Singleton, Andrew Hum Mol Genet Articles 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. Oxford University Press 2014-09-15 2014-05-02 /pmc/articles/PMC4170717/ /pubmed/24794858 http://dx.doi.org/10.1093/hmg/ddu203 Text en © The Author 2014. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
Guerreiro, Rita
Brás, José
Hardy, John
Singleton, Andrew
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title_full Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title_fullStr Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title_full_unstemmed Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title_short Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
title_sort next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170717/
https://www.ncbi.nlm.nih.gov/pubmed/24794858
http://dx.doi.org/10.1093/hmg/ddu203
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