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. 2021 Feb 5;23(6):1065–1074. doi: 10.1038/s41436-020-01096-4

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© The Author(s) 2021, corrected publication 2021

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 license, and indicate if changes were made. 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/4.0/.

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Fig. 4 — Assessment of the notable clinical cases. (a) Principal component analysis (PCA) plots for Clin136 (no genetic variant identified), Clin6 (no genetic variant identified), and Clin187 (DNMT3A:c.2146G>A [p.Val716Ile]). (b) Corresponding methylation variant pathogenicity (MVP) scores for the notable clinical cases. Both PCA plots and MVP scores provide conclusive evidence for EpiSign classification of these clinical cases.