Ultra-rare Disease and Genomics-Driven Precision Medicine
Genomics & Informatics
;
: 42-45, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-213651
ABSTRACT
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Traducción
/
Enfermedades Raras
/
Diagnóstico
/
Medicina de Precisión
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Genomics & Informatics
Año:
2016
Tipo del documento:
Artículo
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