Figure 3
From: In Silico identification of a common mobile element insertion in exon 4 of RP1
(A) Next-generation sequencing data from the Integrative Genomics Viewer at the Alu insertion junction from whole-genome sequencing of B.II-1 and one control sample. Integrative Genomics Viewer with “show soft-clipped bases” revealed multiple reads with aberrant alignments on the right side corresponding to an Alu Y insertion. (B) On the left side of aberrant soft-clipped bases from whole-genome sequences of D.I-2., Alu Y with the poly(A) tail was found. The space between the Alu insertion and poly(A) tail corresponds to target site duplication (sequence: AAAGAAAACAC). Coverage depth decreased sharply at the junction of the Alu insertion (red arrow).
