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Accurate and objective copy number profiling using real ...

Review ArticleAccurate and objective copy number profiling using real-time quantitative PCRB arbara D haenea, Jo Vandesompelea,b, Jan Hellemansa,b,*aCenter for Medical Genetics, Ghent University Hospital, Ghent, BelgiumbBiogazelle, Ghent, Belgiumarticle infoArticle history:Accepted 14 December 2009 Available online 6 January 2010 Keywords:qPCRCNVCopy number variationsValidationExperiment designQuality controlabstractCopy number changes are known to be involved in numerous human genetic disorders. In this context,qPCR-based copy number screening may serve as the method of choice for targeted screening of the rel-evant disease genes and their surrounding regulatory landscapes. qPCR has many advantages over alter-native methods, such as its low consumable and instrumentation costs, fast turnaround and assaydevelopment time, high sensitivity and open format (independent of a single supplier).

Review Article Accurate and objective copy number profiling using real-time quantitative PCR Barbara D’haenea, Jo Vandesompelea,b, Jan Hellemansa,b,* a Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium bBiogazelle, Ghent, Belgium article info …

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