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. 2021 Apr 29;13:65. doi: 10.1186/s13073-021-00883-1

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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 — Polymorphic insertion of processed pseudogenes. Analysis of long reads revealed the entire structures of insertion of processed pseudogenes. a Examples of the processed pseudogene. Inserted sequences of 3017 bp insertion at chr12:125316602_125316603 and 1363 bp insertion at chr4:7947946_7947947 were mapped to exons of TDG and MOSMO genes. b An example of non-reference poly(A) sequence in a polymorphic insertion of processed pseudogenes. An output of web-BLAT is shown. Blue and black characters indicate aligned and unaligned bases, respectively. Black characters in the sequences show the nucleotides that are not found in the reference genome sequence. c Average expression level of candidate origin genes of processed pseudogenes. The expression data was obtained from GTEx expression data [33], and the average expression level was calculated. The expression levels were compared between the candidate origins and other genes (Wilcoxon signed-rank test)