Figure 1 | Scientific Reports

Figure 1

From: In Silico identification of a common mobile element insertion in exon 4 of RP1

Figure 1

Inherited eye disease cohort. A total of 494 unrelated patients with inherited eye diseases underwent targeted panel next-generation sequencing or whole-exome sequencing. A subset of samples with Leber congenital amaurosis, cone-rod dystrophy, Stargardt disease, macular dystrophy, or retinitis pigmentosa underwent an additional RP1-Alu analysis. Among 273 patients, 1.8% patients had the RP1-Alu insertion.

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