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. 2020 Oct 1;29(21):3465–3476. doi: 10.1093/hmg/ddaa218

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© The Author(s) 2020. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

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Distinct DS methylome profiles. (A) Line plot of normalized copy number based on read depth over 5 kb bins for chromosome 21 in all 86 samples. (B) Density plot of average percent smoothed methylation for CpGs covered in the 3 diagnostic groups. (C) Heatmaps of significant (q < 0.05) DMRs from the DS versus TD comparison, significant (q < 0.05) DMRs from the DS versus DD comparison, and significant (p < 0.05) DMRs from the DD versus TD comparison. All heatmaps display hierarchal clustering of Z-scores, which are the number of standard deviations from the mean of non-adjusted percent smoothed individual methylation values for each DMR.