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. 2024 Jan 8;16:5. doi: 10.1186/s13073-023-01265-5

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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 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. 6 — Dissection of complex pleiotropic patterns of recurrent CNVs at 15q13. A 15q13 genetic landscape. Top: Coordinates of duplications (shades of blue; top) and deletions (shades of red; bottom) overlapping the maximal CNV region (CNVR; delimited by vertical dashed lines) associated with acute kidney injury (AKI), asthma, forced vital capacity, hemorrhagic strokes, heart rate, anemia, mean corpuscular hemoglobin, and red blood cell count. CNVs are divided and colored according to whether they span breakpoint (BP) 4 to 5 or D-CHRNA7 to BP5, with atypical CNVs in gray (Additional file 1: Note 6). Breakpoints reflect segmental duplications, represented as a gray gradient proportional to the degree of similarity. Genomic coordinates of genes and DECIPHER GD are displayed. Bottom: Negative logarithm of association p-values of CNVs (best model in parenthesis) with renal, pulmonary, cardiovascular, and hematological traits. Traits-specific CNVRs are shown with vertical dashed lines. Red horizontal dashed line represents the genome-wide threshold for significance for CNV-GWAS (p ≤ 7.5 × 10⁻⁶). B, C, D, E Prevalence (± standard error) of B AKI, C hemorrhagic stroke, D anemia, and E asthma according to 15q13 copy-number (CN) and groups from A. P-values compare BP4-5 and D-CHRNA7-BP5 deletion (CN = 1) and duplication (CN = 3) carriers to copy-neutral (CN = 2) individuals (two-sided Fisher test). Number of cases and sample sizes are indicated (N = cases/sample size)