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. 2022 Jan 11;12:555. doi: 10.1038/s41598-021-04505-z

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Evaluation of ISV tool on gnomAD data. The x-axis represents the population frequencies of CNVs (black dots) with the ISV probability of pathogenicity on the y-axis. The figure shows that the majority of frequently occurring CNVs were classified as benign by ISV, while the ones with a higher probability of pathogenicity occur rarely (implemented with seaborn package⁴⁵, version 0.11.0).