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arnavaz edited this page Jun 12, 2018
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VisCap is a tool to infer and visualize germ-line copy number variants from targeted clinical sequencing data.
Method: VisCap calculates the fraction of overall sequence coverage assigned to genomic intervals and computes log2 ratios of these values to the median of reference samples profiled using the same test configuration. Candidate CNVs are called when log2 ratios exceed user-defined thresholds.