title: 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.
authors.affiliation: 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.
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.affiliation: Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
authors.forename: José
authors.initials: J
authors.lastname: Brás
authors.affiliation: Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D059472:Exome / Q000235:genetics*; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods