Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
Title | Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Guerreiro, R, Brás, J, Hardy, J, Singleton, A |
Journal | Hum Mol Genet |
Volume | 23 |
Issue | R1 |
Pagination | R47-53 |
Date Published | 2014 Sep 15 |
ISSN | 1460-2083 |
Keywords | Exome, 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. |
DOI | 10.1093/hmg/ddu203 |
Alternate Journal | Hum. Mol. Genet. |
PubMed ID | 24794858 |
PubMed Central ID | PMC4170717 |
Grant List | 089698 / / Wellcome Trust / United Kingdom G-1107 / / Parkinson's UK / United Kingdom MC_G1000735 / / Medical Research Council / United Kingdom / / Medical Research Council / United Kingdom |