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. 2023 Nov 20;10:813. doi: 10.1038/s41597-023-02645-7

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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 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/.

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Fig. 1 — Heterozygous and homozygous (a) SNP and (b) indel counts in targeted exonic regions. Data represents uniformly processed WES data of cohorts from the University of San Diego (NDA ID 2968), University of Michigan (NDA ID 2966), and Kennedy Krieger Institute (KKI; NDA ID 2964). Phenotype for each cohort is marked at the bottom of the figure in a rugchart.