Next-generation sequencing in molecular diagnosis of hereditary hearing loss / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 1815-1818, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-747616
ABSTRACT
Next-generation sequencing (NGS) technologies have improved as well as the costs have gradually decreased in the detections of genetic diseases. This article describes the principle, platform, and data analysis of NGS and the application of NGS technologies to the molecular diagnosis of hereditary hearing loss (HL). The use of NGS technologies makes the discovery of HL genes more feasible than ever. And the data obtained by NGS used in genetic counseling for clinical practice may assist in defining genetic profiles of HL individuals and expedite the pace of personalized medical care.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2014
Tipo de documento:
Artigo
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