Figure 2

Example of an Alu insertion. Example of an Alu insertion. Arrows show read direction, black arrows show reads mapping normally, red lines show the insert between them, green arrows show l reads and blue arrow show r reads. The leftmost figure shows a normal individual, center an heterozygote and rightmost an individual homozygote for an Alu insertion. Red dot at the bottom of each figure shows the location of the Alu insertion.