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. 2021 Aug 13;22:224. doi: 10.1186/s13059-021-02447-3

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© The Author(s) 2021

Open AccessThis 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. 3 — FXS mosaicism simulation. The Y-axis labels specify the composition of full (FM) and premutation (PM) alleles in each mosaic sample simulated. The left panel plots the number of reads simulated (white) overlaid by the number of reads assigned by Straglr for each allele (green) in each sample. The right panel plots the copy number(s) simulated (white) overlaid by Straglr’s reported copy number(s) (green) for each sample. The horizontal length of each green bar represents the average of results from ten samples of the same composition and the error bar represents the 95% confidence interval. Thirty simulated reads spanning the FMR1 repeat locus with the specified allele composition is used as the input for each experiment. FM allele has 500 repeats and PM has 150 repeats