Copy-number variation (CNV) is defined as genomic regions that have been repeated one or more times and these variations play an important role in normal genetic variation and in some diseases. DNASTAR’s CNV workflow is used to analyze genomic variation by considering changes over a region, as indicated by deleted or duplicated gene copies. This is in contrast to the Tutorial 1: Whole genome reference-guided workflow with analysis in SeqMan Pro, which looked at smaller SNPS and indels (<25bp).

In the Tutorial 6 workflow, you will run a set of paired-end Illumina sequence files from MG1655 E. coli against the DH10B reference genome. MG1655 has several deleted regions compared to the DH10B reference sequence. In addition, the reference sequence contains a large duplication.

Begin with Part A: Setting up the CNV project in SeqMan NGen.

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