A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Article
em En
| MEDLINE
| ID: mdl-30901545
ABSTRACT
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Raras
/
Pesquisa Translacional Biomédica
/
Sequenciamento do Exoma
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article