Genetics and Genomics Commons^™

Comprehensive Analysis Of Human Subtelomeres By Whole Genome Mapping, Eleanor Young, Heba Z. Abid, Pui-Yan Kwok, Harold Riethman, Ming Xiao

School of Medical Diagnostics & Translational Sciences Faculty Publications

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 …