ArticleNucleic acids research2017
High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- TelOMpy enables single-molecule resolution of telomere length from optical genome mapping data.BMC biology · 2025Article
- Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.Nucleic acids research · 2025Article
- Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation.BMC bioinformatics · 2024Article
- Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions.Current hematologic malignancy reports · 2023Review
- Article
- Telogator: a method for reporting chromosome-specific telomere lengths from long reads.Bioinformatics (Oxford, England) · 2022Article
- Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis.Analytical chemistry · 2021Article
- Single-molecule optical genome mapping in nanochannels: multidisciplinarity at the nanoscale.Essays in biochemistry · 2021Article
- Customized optical mapping by CRISPR-Cas9 mediated DNA labeling with multiple sgRNAs.Nucleic acids research · 2021Article
- Keeping Balance Between Genetic Stability and Plasticity at the Telomere and Subtelomere ofFrontiers in cell and developmental biology · 2021Review
- Single-molecule analysis of subtelomeres and telomeres in Alternative Lengthening of Telomeres (ALT) cells.BMC genomics · 2020Article
- Telomere and Subtelomere R-loops and Antigenic Variation in Trypanosomes.Journal of molecular biology · 2020Review
- Subtelomeric Transcription and its Regulation.Journal of molecular biology · 2020Review
- Telomeres and Telomere Length: A General Overview.Cancers · 2020Review
- Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.PLoS genetics · 2020Article
- Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data.Scientific reports · 2018Article
- Evolutionary rates of mammalian telomere-stability genes correlate with karyotype features and female germline expression.Nucleic acids research · 2018Article
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9 authors.
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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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