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. 2019 Oct 11;10:4630. doi: 10.1038/s41467-019-12520-y

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© The Author(s) 2019

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 — Estimating enrichment of deleterious MEIs. Depicted are the total number of expected (black) and observed (red) de novo mutations observed in exons (a) and enhancers (b) for all, high pLI (pLI > 0.9), and known monoallelic DD (MA DDG2P) genes. Expectation is based on the Poisson distribution of 100 simulations utilizing the neutral mutation rate (1.2 × 10^–11 μ). P-values are based on the Poisson distribution and used to determine statistical deviation of observed to expected de novo counts for exons and enhancers