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. 2020 Feb 6;10:2057. doi: 10.1038/s41598-020-59026-y

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© The Author(s) 2020

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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Different technologies exhibit specific patterns of coverage within exons and differ coverage distribution within exons. For all plots, a subset of samples was used as described earlier. (a) Example of sequencing coverage patterns across exons of the HNRNPD gene. Selected samples with similar mean CDS coverage are shown. (b) Distribution of relative coverage from the start to the end of target interval, averaged over all CDS regions. (c) Within-interval coverage evenness (WIE) values calculated from distributions shown in (b) (see Methods for more details; all capture technologies differ in pairwise U-test with Holm-Bonferroni FDR correction (adjusted p-value < 0.001)). (d) Distribution of normalized mean coverage across CDS intervals. As in Fig. 1, dotted line represents ideal case baseline. (e) Between-interval coverage evenness (BIE) values derived from normalized coverage curves shown in (d). Red points indicate WGS samples obtained from open sources, while grey points represent our dataset.