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Fig. 3 | Genome Medicine

Fig. 3

From: Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

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)

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Genome Medicine

ISSN: 1756-994X

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