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WebMar 20, 2024 · 4 Loading Copy-Number Data. CNVfilteR functions expect germline CNVs calls to be a GRanges object with a few specificic metadata columns:. cnv for storing the CNV type: duplication or deletion.; sample for storing the sample name of the CNV.; You can create this object yourself, but CNVfilter provides the proper function to do this, … WebApr 30, 2024 · Background Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. The clinically relevant CNVs are hard to detect because CNVs are common structural variations that define large parts of the normal human genome. CNV calling from short-read sequencing data has the potential to … WebMay 28, 2024 · Author summary As an important type of genomic structural variation, CNVs are associated with complex phenotypes because they change the number of copies of genes in cells, affecting coding sequences and playing an important role in the susceptibility or resistance to human diseases. To identify CNVs, several experimental methods have … glitch fortnite skin pc