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

Marioni, John C; Thorne, Natalie P; Valsesia, Armand; Fitzgerald, Tomas; Redon, Richard; Fiegler, Heike; Andrews, T Daniel; Stranger, Barbara E; Lynch, Andrew G; Dermitzakis, Emmanouil T; Carter, Nigel P; Tavaré, Simon; Hurles, Matthew E

Description

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...[Show more]

CollectionsANU Research Publications
Date published: 2007-10-25
Type: Journal article
URI: http://hdl.handle.net/1885/95363
Source: Genome Biology
DOI: 10.1186/gb-2007-8-10-r228

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