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. 2023 May 11;32(22):3123–3134. doi: 10.1093/hmg/ddad079

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© The Author(s) 2023. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://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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Methylation episignatures for overlapped CpGs in SETD2 patients. Common CpGs between SETD2-1740 and SETD2-LLS. Overlapped DMPs were identified from the data in Figure 2 (SETD2-1740 versus control) and Figure 3 (SETD2-LLS versus control) (NOT based on a comparative analysis from Supplementary Material, Fig. S3). Several overlapped DMPs are summarized in Supplementary Material, Figure S4A and SB. There are 25 CpG islands and 4 DMBs overlapped between the two groups. All DMPs show (A) hypermethylated across 6 SETD2-1740 cases [Type 2 (R1740Q) cases display slightly milder episignatures than Type 1 (R1740W)] whereas (B) all hypomethylated in 4 SETD2-LLS cases. The episignatures of both groups were completely opposite.