Introduction Recently, next generation sequencing (NGS) has proven its diagnostic utility for a growing range of clinical applications. The intent being to replace a multitude of primary molecular diagnostic tools, such as Sanger Sequencing, qPCR, MLPA and array-based copy number analysis (aCNA), with a single methodology. However, extraction of copy number variations (CNVs) from NGS data has been challenging. In this case study, Greenwood

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