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

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial 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. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. 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-nc-sa/4.0/.

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Fig. 2 — (a) Targeted next-generation sequencing (NGS) analysis in a cohort of 500 IRD subjects reveals single-nucleotide variant (SNV)/small indel solutions in 55.6% cases, copy-number variation (CNV) solutions in 8.8% cases, and MAK-Alu insertions in 1.4% cases. (b) Breakdown of CNV solutions by gene, with the number of patients solved by SNVs in the same gene. Note that genes that commonly have SNV solutions (USH2A, EYS) also tend to have CNV solutions, a notable exception being PRPF31, in which CNVs are more common than expected based on the number of SNVs. CNV copy-number variation, IRD inherited retinal degeneration, SNV single-nucleotide variant.