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. 2022 Feb 17;14:24. doi: 10.1186/s13148-022-01236-4

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© The Author(s) 2022

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — Genes with DMPs in promoters are enriched for biological processes and transcription factor binding motifs. A Top five most significantly enriched biological processes (BP) terms of genes with a DMP (transgender women 12 months vs baseline) within 5 kilobases (Kb) (in orange) or within 1 megabase (Mb) (in green) of a transcription start site (TSS). B Top five most significantly enriched BP terms of genes with a DMP (transgender men 12 months vs baseline) within 5 Kb or 1 Mb of a TSS. In A and B, BP terms are followed by (unadjusted p value) and [number of target genes in term]. Adjusted p values can be found in supplementary tables. C Outline of the number of 12-month GAHT-associated DMPs for feminizing (pink) or masculinizing (blue) GAHT, and whether DMP is promoter proximal (< 5 Kb of TSS) or distal (> 5 Kb of TSS). D Enriched transcription factor binding motifs (TFBMs) in genomic sequences spanning 50 bp upstream and downstream of promoter DMPs and distal DMPs. Heatmaps show the fold change (FC) in TFBM abundance relative to average background abundance (row-scaled), with white squares indicating TFBMs with unadjusted p value < 0.05, FC > 1.5, and change in abundance of > 5%