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. 2018 Jan 4;9:67. doi: 10.1038/s41467-017-02306-5

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© The Author(s) 2017

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. 3 — Epigenome-wide analyses confirm the presence of the epimutation in genomic DNA and sperm. a Epi-Manhattan plot for the differences between β values in the epi-MMACHC subjects and controls (β_Epi-MMACHC–β_Controls). The horizontal line indicates a difference of 0.3; the volcano plot shows the relationship between (β_Epi-MMACHC–β_Controls) and −log₁₀ (P-value) for the t-test. b Enlarged view of the MMACHC locus; β values of the CpG probes in the MMACHC locus and the epi-linkage disequilibrium plot reporting the matrix relationship between the CpG probes based on the blood samples. The dotted line corresponds to a β value threshold of 0.2, below which the CpG probe was considered to be fully unmethylated. c Genomic position of the MMACHC locus according to RefSeq Genes 105v2, NCBI (GRCh37)