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. 2016 May;123(5):1143–1150. doi: 10.1016/j.ophtha.2016.01.009

Figure 1.

Figure 1

Data analysis and study design summary. Overview of targeted next-generation sequencing (NGS) diagnostic testing. *Single carrier variant defined as an individual with a pathogenic heterozygous variant found in a gene relevant to their clinical indication of inherited retinal disease (IRD) that is known to cause recessively inherited disease. WGS = whole genome sequencing.