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

TitleNext generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
Publication TypeJournal Article
Year of Publication2014
AuthorsGuerreiro R, Brás J, Hardy J, Singleton A
JournalHum Mol Genet
Volume23
IssueR1
PaginationR47-53
Date Published2014 Sep 15
ISSN1460-2083
KeywordsExome, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Mutation, Nervous System Diseases, Phenotype, Sequence Analysis, DNA
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.

DOI10.1093/hmg/ddu203
Alternate JournalHum. Mol. Genet.
PubMed ID24794858
PubMed Central IDPMC4170717
Grant List089698 / / Wellcome Trust / United Kingdom
G-1107 / / Parkinson's UK / United Kingdom
MC_G1000735 / / Medical Research Council / United Kingdom
/ / Medical Research Council / United Kingdom