Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

ABSTRACT:

Background

Large-scale high throughput studies using microarray technology have established that copy number variation (CNV) throughout the genome is more frequent than previously thought. Such variation is known to play an important role in the presence and development of phenotypes such as HIV-1 infection and Alzheimer's disease. However, methods for analyzing the complex data produced and identifying regions of CNV are still being refined.

Results

We describe the presence of a genome-wide technical artifact, spatial autocorrelation or 'wave', which occurs in a large dataset used to determine the location of CNV across the genome. By removing this artifact we are able to obtain both a more biologically meaningful clustering of the data and an increase in the number of CNVs

SUBMITTER: Marioni JC 

PROVIDER: S-EPMC2246302 | biostudies-literature | 2007

REPOSITORIES: biostudies-literature