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. 2024 Jun 28;25:646. doi: 10.1186/s12864-024-10552-3

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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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Summary of variants in study population. A Bar chart displaying variants by type, after application of all filters. B Bar chart displaying variants by function. C Bar chart displaying 35 most frequently mutated genes. D Bar chart displaying the 35 most recurrent variants. E Scatterplot showing the top 50 most frequently mutated genes, with the number of impacted samples on the x-axis, and the ratio of observed frequency to expected frequency on the y-axis. F Scatterplot showing select enriched GO terms in the set of genes with > = 4 variants with obs/exp > 1.3 per gene, ranked by -log(p) (hypergeometric test)