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

Rita Guerreiro; José Brás; John Hardy; Andrew Singleton

doi:10.1093/hmg/ddu203

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

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

Authors

Rita Guerreiro¹, José Brás², John Hardy², Andrew Singleton³

Affiliations

¹ Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA r.guerreiro@ucl.ac.uk.
² Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
³ Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Exome / genetics*
Genetic Association Studies / methods
Genetic Predisposition to Disease
Genetic Variation
High-Throughput Nucleotide Sequencing / methods*
Humans
Mutation
Nervous System Diseases / genetics*
Phenotype
Sequence Analysis, DNA / methods

Abstract

Publication types

MeSH terms

Grants and funding