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. 2023 Feb 2;29(2):483–492. doi: 10.1038/s41591-022-02194-3

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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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Extended Data Fig. 6 — a, Rates of gene with rare synonymous qualifying variants in 703 POI candidate genes. The upper panel shows the distribution of tally of genes carrying at least a rare synonymous qualifying variant among all tested genes when comparing the POI case cohort (red distribution, n = 1,030) to the control cohort (blue distribution, n = 5,000). We found no statistically significant difference between case and control contribution (two-sided Wilcoxon rank sum test, P = 0.49). The lower panel shows mean (points) and SD (bars) of qualifying genes of the case cohort (red) and the control cohort (blue). b, The quantile-quantile plot of the expected versus observed P values comparing the burden of synonymous variants in 703 genes (two-sided Fisher’s exact test). There is no significant inflation between the case and control cohort.