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[Preprint]. 2024 Sep 25:2024.09.24.614721. [Version 1] doi: 10.1101/2024.09.24.614721

Extended Data Figure 5. Assembly of 1,246 human centromeres across 65 diverse human genomes show genetic and epigenetic variation.

Extended Data Figure 5.

a) Number of completely and accurately assembled centromeres across 65 diverse human genomes, colored by population group. Mean, dashed line. b,c) Examples of di-kinetochores, defined as two CDRs located >80 kbp apart from each other, on the b) HG02953 Chromosome 6 centromere and c) HG01573 Chromosome 15 centromere. Ultra-long ONT reads span both CDRs in each case, indicating that the CDRs occur on the same chromosome in the cell population. d) Differences in the ɑ-satellite HOR array organization and methylation patterns between the CHM13 and NA18989 (H1) chromosome 19 centromeres. The NA18989 (H1) chromosome 19 centromere has two CDRs, indicating the potential presence of a di-kinetochore. e) Mobile element insertions (MEIs) in the Chromosome 2 centromeric α-satellite HOR array. Most MEIs are consistent with duplications of the same element rather than distinct insertions, and all of them reside outside of the CDR.