Figure 3
From: Mobster: accurate detection of mobile element insertions in next generation sequencing data
Validation of MEI events detected. (A) Validation of Alu events, bp in brackets correspond to the expected PCR product size of the wild-type allele. 1: 100 bp marker, 2: WES event10 homozygous MEI insertion (178 bp). (B) Sanger trace of first breakpoint. (C) Schema representing exonic Alu insertion in ZNF880. (D) Single-end exome sequencing reveals a novel processed pseudogene (UQCR10) insertion into the exon of C1orf194. 1: 100 bp marker, 2: homozygous insertion, 3: heterozygous insertion. (E) Sanger trace representing distal breakpoint of insertion. Distal breakpoint has been mapped to chromosome 1 between 109,650,634-109,650,635 (F) Schema representing the retrotransposition event.