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. 2023 Jul 18;8:17. doi: 10.1038/s41525-023-00363-y

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© The Author(s) 2023

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — a Venn plot showing the number of chromatin genes, as well as the number and P-value for the overlap (arrow) of chromatin genes identified between 22q11.2DS-CTDs (green) and studies of sporadic CHD (PCGC-lilac and Sifrim-dark blue is from integrated analysis, light blue is de novo mutations in S-CHD). A total of 1861 variants were found in 1261 genes serving as the background of the analysis. b UpSet plot illustrates the connections that are shown in the Venn plot. Sifrim CHD refers to Sifrim et al, CHD genes (n = 16); 22q11.2 chromatin refers to 22q11.2DS chromatin genes (n = 39); Sifrim chromatin refers to Sifrim et al, chromatin genes (n = 65); PCGC chromatin refers to PCGC chromatin genes (n = 90). Individual genes in each set are provided in Supplementary Table 11. c Types of variants in chromatin genes (PTV is protein truncating, D-mis are damaging missense variants, mis is missense). A total of 57 PTVs were identified in 90 chromatin genes in sporadic CHD by the PCGC. In total, 14 PTVs were identified among 24 de novo variants in nine genes by Sifrim et al. A total of three PTVs were found among 42 variants in 22q11.2DS-CTDs. P-values derive from two-Proportions Z-Test.