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Review
. 2014 Sep 15;23(R1):R47-53.
doi: 10.1093/hmg/ddu203. Epub 2014 May 2.

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

Rita Guerreiro  1 , José Brás  2 , John Hardy  2 , Andrew Singleton  3
Affiliations
Review

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

Rita Guerreiro et al. Hum Mol Genet. .

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.

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