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

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.

SUBMITTER: Guerreiro R 

PROVIDER: S-EPMC4170717 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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

Guerreiro Rita R   Brás José J   Hardy John J   Singleton Andrew A  

Human molecular genetics 20140502 R1

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 neur  ...[more]

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