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. 2020 Feb 10;22(6):1079–1087. doi: 10.1038/s41436-020-0759-8

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.

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Fig. 4 — (a) Breakdown of true positive CNVs predicted by different methods. Note that all true positive CNVs were predicted by gCNV. (b) Breakdown of false positive CNVs predicted by different methods. Note that only one false positive CNV was predicted by all three CNV prediction methods. (c) The distribution of sizes of CNVs predicted by different methods. Note that in general, duplications were predicted less often, and were on average larger in size than predicted deletions. (d) Comparison of the gCNV predicted sizes of validated CNVs that were also predicted by the single-nucleotide polymorphism (SNP) array (gCNV SA + ve) versus the gCNV predicted size of validated CNVs that were not predicted by the SA (gCNV SA-ve). ED ExomeDepth, qPCR quantitative polymerase chain reaction.