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. 2021 Jan 12;12:338. doi: 10.1038/s41467-020-20565-7

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© The Author(s) 2021

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. 2 — a Overlap between CH cases carrying gene mutations (GMs) and chromosomal alterations (mCAs). Number of subjects are shown in black. b, c The prevalence of mCA increases with mutation burden and VAF. Observed proportion of mCAs within each subgroup is shown as solid dots; 95% CIs generated from a binomial distribution around the observed proportion are shown in blue shades. Gene mutations in regions affected by mCAs are excluded from this analysis. d Age distribution of subjects with mCA only, gene mutations only, and both types of mutations. Unadjusted P values derived from a two-ended Student’s t-test are shown. The lower and upper bounds of boxes denote 25^th (Q1) and 75^th (Q3) percentiles of observed ages, respectively. The lower and upper whiskers indicate the minima (Q1 − 1.5*IQR) and maxima (Q3 + 1.5*IQR). e Volcano plot of q values and odds ratios of gene representation in mCA-positive versus mCA-negative cases (Fisher’s exact test). Genes significantly enriched (FDR < 0.05) in mCA subjects are colored in red. f Frequency of gene mutations significantly enriched in subjects with mCA. Source data are provided as a Source Data file.