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. 2024 Jan 22;15:657. doi: 10.1038/s41467-024-44980-2

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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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — A Phrank ranking of rare SVs within exons. The KMT2E rare deletion ranks first among all rare SVs that overlap exons. B Pedigree of the 14,446 bp deletion and its representation in the genome graph. C UCSC Genome Browser view of the affected region. D Raw alignments of long-reads in the proband genome, the maternal and the paternal genomes, confirming the deletion, viewed in the Integrative Genomics Viewer (IGV).