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. 2020 Feb 27;48(8):e46. doi: 10.1093/nar/gkaa120

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© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Sources of WSH and their manifestation in bisulfite sequencing reads. Each line represents a sequencing read. Characteristics of different WSH targeted at quantifying inter-molecule and intra-molecule heterogeneity are outlined below. (A) Cell-type heterogeneity: a sample comprises different cell types with different DNA methylation patterns. (B) Cellular contamination: sample preparation does not yield a pure population of cells of interest. (C) ASM: alleles differ in their DNA methylation states. (D) DNA methylation erosion: cells lose DNA methylation in a stochastic process. Epipolymorphism, Entropy, FDRP and qFDRP describe inter-molecule WSH (scenarios A–C), while PDR and MHL describe intra-molecule WSH (scenario D).