Performance assessment of copy number microarray platforms using a spike-in experiment.

TitlePerformance assessment of copy number microarray platforms using a spike-in experiment.
Publication TypeJournal Article
Year of Publication2011
AuthorsHalper-Stromberg E, Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott AF, Baylin S, Pevsner J, Spencer F, Irizarry RA
JournalBioinformatics (Oxford, England)
Volume27
Issue8
Pagination1052-60
Date Published2011 Apr 15
Abstract

Changes in the copy number of chromosomal DNA segments [copy number variants (CNVs)] have been implicated in human variation, heritable diseases and cancers. Microarray-based platforms are the current established technology of choice for studies reporting these discoveries and constitute the benchmark against which emergent sequence-based approaches will be evaluated. Research that depends on CNV analysis is rapidly increasing, and systematic platform assessments that distinguish strengths and weaknesses are needed to guide informed choice.

DOI10.1002/gepi.20595
Alternate JournalBioinformatics