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

Rita Guerreiro | Zendy; José Brás | Zendy; John Hardy | Zendy; Andrew Singleton | Zendy

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

Author(s) -

Rita Guerreiro,

José Brás,

John Hardy,

Andrew Singleton

Publication year - 2014

Publication title -

human molecular genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.811

H-Index - 276

eISSN - 1460-2083

pISSN - 0964-6906

DOI - 10.1093/hmg/ddu203

Subject(s) - biology , exome sequencing , mendelian inheritance , dna sequencing , identification (biology) , exome , genetics , disease , computational biology , molecular genetics , gene , human genetics , bioinformatics , mutation , pathology , medicine , botany

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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