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. 2020 Feb 18;22(5):945–953. doi: 10.1038/s41436-020-0754-0

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. 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-nc-nd/4.0/.

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Fig. 1 — a Depth profiles across the SMN1/SMN2 regions. Samples with a total SMN1 + SMN2 copy number of 2, 3, 4, and 5 (derived from average read depth in the two genes) are shown as green, blue, black, and orange dots, respectively. Depth from 50 samples are summed up for each CN category. Each dot represents normalized depth values in a 100-bp window. Read counts are calculated in each 100-bp window, summing up reads from both SMN1 and SMN2, and normalized to the depth of wild-type samples (CN = 4). The SMN exons are represented as purple boxes. The two x-axes show coordinates (hg19) in SMN1 (bottom) and SMN2 (upper). b Depth profiles aggregated from 50 samples carrying a deletion of exons 7 and 8 are shown as red dots. Read depths are calculated in the same way as in (a).