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. 2024 Sep 23;56(10):2046–2053. doi: 10.1038/s41588-024-01910-8

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© The Author(s) 2024

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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Extended Data Fig. 7 — Cumulative distribution functions for pairwise phenotypic similarity scores as calculated by Phenopy. The distribution of novel genes passing FDR < 5% (ATAD2B, CRELD1, HECTD4, KBTBD2, ZDHHC16) is shown in red, consensus/discordant genes passing FDR < 5% in blue, and the similarity scores of random pairs in grey. Random pairs were selected proportionally to match the occurrence of DDD/DDD, GeneDx/GeneDx and DDD/GeneDx pairs in the novel and consensus/discordant sets. The phenotypic similarity scores in patients with damaging biallelic genotypes in the novel genes were not significantly lower than those for patients with such genotypes in consensus/discordant genes (one-sided Wilcoxon rank sum p = 0.12), but they were significantly higher than random scores (one-sided Wilcoxon rank sum p = 0.0058).