Application of next generation sequencing technology in Mendelian movement disorders / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
; (12): 197-205, 2016.
Article
em En
| WPRIM
| ID: wpr-815053
Biblioteca responsável:
WPRO
ABSTRACT
Next generation sequencing (NGS) has developed very rapidly in the last decade. Compared with Sanger sequencing, NGS has the advantages of high sensitivity and high throughput. Movement disorders are a common type of neurological disease. Although traditional linkage analysis has become a standard method to identify the pathogenic genes in diseases, it is getting difficult to find new pathogenic genes in rare Mendelian disorders, such as movement disorders, due to a lack of appropriate families with high penetrance or enough affected individuals. Thus, NGS is an ideal approach to identify the causal alleles for inherited disorders. NGS is used to identify genes in several diseases and new mutant sites in Mendelian movement disorders. This article reviewed the recent progress in NGS and the use of NGS in Mendelian movement disorders from genome sequencing and transcriptome sequencing. A perspective on how NGS could be employed in rare Mendelian disorders is also provided.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Análise de Sequência de DNA
/
Diagnóstico
/
Alelos
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Transcriptoma
/
Genética
/
Ligação Genética
/
Métodos
/
Transtornos dos Movimentos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2016
Tipo de documento:
Article