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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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Summary of repetitive human CDS regions inaccessible by current WES and WGS technologies. (a) Circa diagram showing cross-mappability of CDS regions. Only a subset of clinically relevant genes is shown to decrease diagram complexity. (b) MsigDB enrichment analysis of genes with CDS regions having MF > 0.4 using canonical pathways (CP) list. Top-10 significant hits are shown. Numbers in red indicate the number of genes in each overlap.