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. 2024 Jan 29;15:837. doi: 10.1038/s41467-024-44804-3

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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. 4 — a Normalized gene coverage distribution for the 386 genes in different datasets for ONT and HiFi. b The percentage of SNVs (substitutions and indels) in the data sets for the 386 genes. c Percentage of zero-base coverage per gene, where 50% or more of the gene body is not covered using HiFi and ONT data. d SVs breakpoints that intersect with medical genes across samples for different tissue and extraction methods T40 stands for sample T668639440 and T95 for T662828295, W for Whole Blood cells, B for WBC, and finally A for Autogen and C for Chemagen.