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Published on Dec 7, 2016
Numerous studies have documented the role of Copy Number Variations (CNVs) in human health with associated phenotypes including cancer, obesity, cognitive disability and numerous other maladies. Yet currently, detection of CNVs on targeted gene panels requires an alternative assay such as Chromosomal Microarrays (CMAs). As a result, current CNV detection techniques are expensive, slow and are only capable of detecting large multi-exon events.