Context and Applications of Targeted Genetic Testing, with Emphasis on Copy Number Variants.
Adv Clin Chem
; 75: 33-51, 2016.
Article
en En
| MEDLINE
| ID: mdl-27346615
ABSTRACT
There has been a huge acceleration in our technical ability to detect variation in the human genome in recent years, and there has been a corresponding effort in clinical diagnostic laboratories to take advantage of this progress for the benefit of patients. There has, however, not been an equivalent increase in our understanding of human genetics and disease, not for lack of effort but due to the far greater complexity of understanding variation than the difficulties of detecting it. This chapter describes how software tools can be used to target clinical genetic diagnostic testing in order to exploit technical and scientific advances both efficiently and cost-effectively, while maximizing clinical utility.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Variaciones en el Número de Copia de ADN
Límite:
Adult
/
Animals
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Adv Clin Chem
Año:
2016
Tipo del documento:
Article
País de afiliación:
Reino Unido