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Shield building wall1-meter-thick reinforced concrete. Steel rods ~6.5 cm in diameter, spaced ~13 cm apart Bio shield Leaded concrete ~1.2 m thick with steel lining ~2.5 cm thick inside and out Reactor vessel 21.3 m tall. ~6.4 m in diameter. High tensile steel 10 to 20 cm thick Reactor fuel Weir wall Concrete 46 cm thick. ~7.3 m tall Pedestal Concrete ~1.6 m thick with steel lining ~2.5 cm thick inside and out Dry well wall Metal reinforcement Steel rods ~6.5 cm in diameter, spaced ~13 cm apart. ~1.5 m thick reinforced concrete Multiple layers of safety at nuclear power plants.Boiling water reactor

Motivation While the identification of small variants in panel sequencing data can be considered a solved problem, the identification of larger, multi-exon copy number variants (CNVs) still poses a considerable challenge. Thus, CNV calling has not been established in all laboratories performing panel sequencing. At the same time such laboratories have accumulated large data sets and thus have the need to identify copy number variants on their data to close the diagnostic gap. Results In this manuscript we present our method clearCNV that addresses this need in two ways. First, it helps laboratories to properly assign data sets to enrichment kits. Based on homogeneous subsets of data, clearCNV identifies CNVs affecting the targeted regions. Using real-world data sets and validation, we show that our method is highly competitive with previous methods and preferable in terms of specificity. Availability The software is available for free under a permissible license at {{https://github.com/bihealth/clear-cnv}} Supplementary information Supplementary data are available at Bioinformatics online.