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. 2024 Jan 20;9:6. doi: 10.1038/s41525-024-00391-2

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — 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.