Recent advances in array comparative genomic hybridization technologies and their applications in human genetics

doi:doi:10.1038/sj.ejhg.5201531

European Journal of Human Genetics homepage

European Journal of Human Genetics (2006) 14, 139–148. doi:10.1038/sj.ejhg.5201531; published online 16 November 2005

Recent advances in array comparative genomic hybridization technologies and their applications in human genetics

William W Lockwood^1,2, Raj Chari^1,2, Bryan Chi¹ and Wan L Lam¹

¹Cancer Genetics and Developmental Biology, British Columbia Cancer Research Centre, Vancouver BC, Canada V5Z 1L3

Correspondence: W Lockwood, BC Cancer Research Centre, 675 West 10th Avenue, Vancouver, BC, V5Z 1L3, Canada. Tel: +1 604 675 8112; Fax: +1 604 675 8185; E-mail: wlockwood@bccrc.ca

²These two authors contributed equally to this work

Received 8 June 2005; Revised 20 September 2005; Accepted 13 October 2005; Published online 16 November 2005.

Top

Abstract

Array comparative genomic hybridization (array CGH) is a method used to detect segmental DNA copy number alterations. Recently, advances in this technology have enabled high-resolution examination for identifying genetic alterations and copy number variations on a genome-wide scale. This review describes the current genomic array platforms and CGH methodologies, highlights their applications for studying cancer genetics, constitutional disease and human variation, and discusses visualization and analytical software programs for computational interpretation of array CGH data.