Interpretation of array comparative genome hybridization data: a major challenge.
Cytogenet Genome Res
; 135(3-4): 222-7, 2011.
Article
em En
| MEDLINE
| ID: mdl-22086107
ABSTRACT
The advent and application of high-resolution array-based comparative genome hybridization (array CGH) has led to the detection of large numbers of copy number variants (CNVs) in patients with developmental delay and/or multiple congenital anomalies as well as in healthy individuals. The notion that CNVs are also abundantly present in the normal population challenges the interpretation of the clinical significance of detected CNVs in patients. In this review we will illustrate a general clinical workflow based on our own experience that can be used in routine diagnostics for the interpretation of CNVs.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Interpretação Estatística de Dados
/
Hibridização Genômica Comparativa
Limite:
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Assunto da revista:
GENETICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Holanda