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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). In this chapterwe provide all relevant information for a successfully implement of qPCR-based copy number emphasize the significance of thoroughin silicoand empirical validation of the primers, the needfor a well thought-out experiment design, and the importance of quality controls along the entire work-flow.
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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