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. 2024 Mar 5;10:26. doi: 10.1038/s41421-023-00638-9

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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 The ratios of covered hetSNPs compared with the gold standard in 19 autosomes from 7 aneuploid sperm cells. Outlier blue dots indicate loss and red dots indicate gain of chromatids. The sizes of the dots mean the deviation from the average ratio. The verified aneuploid chromosomes are highlighted by orange rectangles and the sperm A7 is more likely to be an unevenly amplified sample (technical artefact) rather than true aneuploidy. b The rates of covering both alleles at hetSNP sites in sperm cells. Heatmap showing the heterozygosity rates of the 19 autosomes from 12 diploid cells (showing as 2 N), 7 aneuploid sperm cells (1 N ± m) and several haploid sperm cells (1 N). The sperm A7 is more likely to be an unevenly amplified sample (technical artefact) rather than true aneuploidy. c Parental haplotype contribution map of the 20 chromosomes from the aneuploid sperm cell A5 with loss of chromosome 11. Blue regions are the paternal SNPs and red regions are the maternal SNPs. Crossover sites are marked as forks. d Parental haplotype contribution map of the 20 chromosomes from the aneuploid sperm cell A6 with gain of chromosomes 1, 6 and 19. Blue regions are the paternal SNPs and red regions are the maternal SNPs. Crossover sites are marked as forks. e CNVs of the aneuploid sperm A5, showing in 1 Mb windows. f CNVs of the aneuploid sperm A6, showing in 1 Mb windows.