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Journal article
High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres
Nucleic acids research, v 45(9), pp e73-e73
09 Feb 2017
PMID: 28180280
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Accurate maps and DNA sequences for human subtelomere regions, along with detailed knowledge of subtelomere variation and long-range telomere-terminal haplotypes in individuals, are critical for understanding telomere function and its roles in human biology. Here, we use a highly automated whole genome mapping technology in nano-channel arrays to analyze large terminal human chromosome segments extending from chromosome-specific subtelomere sequences through subtelomeric repeat regions to terminal (TTAGGG)n repeat tracts. We establish detailed maps for subtelomere gap regions in the human reference sequence, detect many new large subtelomeric variants and demonstrate the feasibility of long-range haplotyping through segmentally duplicated subtelomere regions. These features make the method a uniquely valuable new tool for improving the quality of genome assemblies in complex DNA regions. Based on single molecule mapping of telomere-terminal DNA fragments, we provide proof of principle for a novel method to estimate telomere lengths linked to distinguishable telomeric haplotypes; this single-telomere genotyping method may ultimately enable delineation of human cis elements involved in telomere length regulation.
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Details
- Title
- High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres
- Creators
- Eleanor Young - Drexel UniversitySteven Pastor - Drexel UniversityRamakrishnan Rajagopalan - Drexel UniversityJennifer McCaffrey - Drexel UniversityJustin Sibert - Drexel UniversityAngel C.Y. Mak - University of California, San FranciscoPui-Yan Kwok - University of California, San FranciscoHarold Riethman - Old Dominion UniversityMing Xiao - Drexel University
- Publication Details
- Nucleic acids research, v 45(9), pp e73-e73
- Publisher
- Oxford University Press
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems
- Web of Science ID
- WOS:000402064200008
- Scopus ID
- 2-s2.0-85026908446
- Other Identifier
- 991019167907904721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology