RPGR and retinitis pigmentosa 1: This is consistent with data suggesting that WGS is a better tool for genetic variant detection in protein-coding regions than WES.10, 28 It is of note that both techniques shared limitations, for example, both targeted NGS and WGS were unable to reproducibly survey the repetitive and AG rich protein-coding region of RPGR (orf15) (Table 4, available at www.aaojournal.org), which accounts for 75% of X-linked RP.29