The POAG associated inversion.

<p>(A) Reads aligning across the inversion breakpoints. Red reads indicate a greater than expected insert size. Read mates for red reads align in the same direction, indicative of an inversion. There were five deleted bases at the 5’ inversion breakpoint and 78 deleted bases at the 3’ deletion breakpoint. Green boxes indicate repeat elements. (B) Overview of the genomic region covered by the inversion. The inverted region is highlighted in blue. Genotyping of the inversion was carried out to confirm the association with POAG. A total of 225 PBGVs were genotyped, including 28 POAG cases, of which 27 were homozygous for the inversion. Results are summarised in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0143546#pone.0143546.t001" target="_blank">Table 1</a>.