Methods and strategies for analyzing copy number variation using DNA microarrays.
Nat Genet
; 39(7 Suppl): S16-21, 2007 Jul.
Article
en En
| MEDLINE
| ID: mdl-17597776
ABSTRACT
The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are variable in copy number, and this diversity is likely to be responsible for a significant proportion of normal phenotypic variation. Current challenges involve developing methods not only for detecting and cataloging CNVs in human populations at increasingly higher resolution but also for determining the association of CNVs with biological function, recent human evolution, and common and complex human disease.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Dosificación de Gen
/
Análisis de Secuencia por Matrices de Oligonucleótidos
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Reino Unido