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. 2020 Feb 10;22(6):1079–1087. doi: 10.1038/s41436-020-0759-8

Fig. 1. Flowchart of analysis strategy for inherited retinal degeneration (IRD) cohort.

Fig. 1

In this study, 500 unrelated IRD patients underwent targeted next-generation sequencing (NGS) and subsequent analysis for potentially causal genetic variants in IRD genes. A subset of the samples underwent additional single-nucleotide polymorphism (SNP) array analysis. Samples that had predicted likely causal copy-number variations (CNVs) were further analyzed with quantitative polymerase chain reaction (qPCR) to confirm the CNVs.