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. 2020 Oct 14;12:88. doi: 10.1186/s13073-020-00785-8

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© The Author(s) 2020

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. 4 — Cord blood ASD DMR genes are significantly enriched for epigenetically dysregulated genes in ASD brain. Gene sets significantly enriched among ASD DMR genes in both discovery and replication sample sets for either males or females (*q < 0.05). Heatmaps show odds ratios for enrichment in genes annotated to DMRs relative to genes annotated to background calculated with Fisher’s exact test for previously published studies of ASD and other neurological disorders. P values were adjusted using the false discovery rate (FDR) method for the total number of gene lists compared (pooled males TD n = 56, ASD n = 56; pooled females TD n = 20, ASD n = 20). Ac, acetylation; DEG, differentially expressed genes; Dup15, Chromosome 15q11-q13 Duplication syndrome; H3K27, histone 3 lysine 27; H3K4, histone 3 lysine 4; LCL, lymphoblastoid cell line; mCpG, CpG methylation; mCpH, CpH methylation; me3, trimethylation; PFC, prefrontal cortex; RTT, Rett syndrome; SFARI, Simons Foundation Autism Research Initiative