Fig. 2: Summary of pathogenic variants identified in an IRD cohort. | npj Genomic Medicine

Fig. 2: Summary of pathogenic variants identified in an IRD cohort.

From: Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

Fig. 2: Summary of pathogenic variants identified in an IRD cohort.The alternative text for this image may have been generated using AI.

a WGS analysis in an IRD cohort achieved an overall diagnostic yield of 13%, among which 7% patients were caused by SVs only, 4% patients by a combination of SNVs and SVs while another 2% by intronic SNVs affecting splicing. b Distribution of 22 SVs and 5 intronic variants among 14 IRD genes, corresponding to 6 IRD disease groups.

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