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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
2015
Genetics in Medicine
Purpose: To develop and validate VisCap, a software program targeted to clinical laboratories for inference and visualization of germ-line copy-number variants (CNVs) from targeted nextgeneration sequencing data. Methods: 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
doi:10.1038/gim.2015.156
pmid:26681316
pmcid:PMC4940431
fatcat:4xhpvy452vefzhvrujp7un5o7m