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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. 3 — a Percentage of samples showing copy number (CN) call agreement with c.840C>T across 16 SMN1–SMN2 base difference sites in African and non-African populations. Coordinates of these 16 sites are given in Table S1 and site 13* is the c.840C>T splice variant site. The black horizontal line denotes 85% concordance. b Histogram of the distribution of SMN1, SMN2, and SMN2∆7–8 copy numbers across five populations in 1kGP and the National Institute for Health Research (NIHR) BioResource cohort. c SMN1 CN vs. total SMN2 CN (intact SMN2 + SMN2∆7–8). d Two trios with an SMA proband detected by the caller and orthogonally confirmed in the Next Generation Children project cohort. CNs of SMN1, SMN2, and SMN2∆7–8 are phased and labeled for each member of the trios.