Document Type


Publication Date




Publication Title

PLoS Genetics






e1008347 (21 pp.)


Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. Based upon these trends we estimate a timeline for the spread of these duplication blocks.


Copyright: © 2020 Young et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Data Availability Statement: All optical mapping files are available from NCBI BioProject database under BioProject PRJNA418343. (URL: https://

Original Publication Citation

Young, E., Abid, H. Z., Kwok, P.-Y., Riethman, H., & Xiao, M. (2020). Comprehensive analysis of human subtelomeres by whole genome mapping. PLoS Genetics, 16(1), e1008347. doi:10.1371/journal.pgen.1008347