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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Detecting copy number variation in next generation sequencing data from diagnostic gene panels

Fig. 2

The general workflow for CNV detection. In “static pool generation” a series pools or collections of normal samples are defined to be used as reference data during CNV detection, representing the expected coverage depth of each region. In “CNV result generation” the coverage depth of the query sample is used to select a suitable pool, and a region-wise comparison between the query sample and the selected pool is used to identify regions with potential CNVs. The resolution of the comparison is improved by using a template of overlapping windows across each region of the target panel, defined as target region-based sliding windows (TRSW), see the main text for details

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