ArticlePLoS genetics2020
Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 56 citations in OpenAlex.
- Article
- Genome evolution in parthenogenetic nematodes shaped by chromosome rearrangements and introgression.Genome research · 2026Article
- The genome sequence of the gastric gland parasite,iScience · 2026Article
- Host-Parasite Interactions Revisited: Evidence of Horizontal Transfer of a Transposable Element Between a Snail and Its Parasite.Genome biology and evolution · 2026Article
- Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats.European journal of human genetics : EJHG · 2026Article
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- Telomere Position Effect-Over Long Distances Acts as a Genome-Wide Epigenetic Regulator Through a Common Alu Element.Aging cell · 2025Article
- Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.Nucleic acids research · 2025Article
- Methods for telomere length measurement: an update on current technologies and emerging approaches.Frontiers in molecular biosciences · 2025Review
- Units containing telomeric repeats are prevalent in subtelomeric regions of a Mesorhabditis isolate collected from the Republic of Korea.Genes & genomics · 2024Article
- Subtelomeric plasticity contributes to gene family expansion in the human parasitic flatworm Schistosoma mansoni.BMC genomics · 2024Article
- Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions.Current hematologic malignancy reports · 2023Review
- Telomerase-independent survival leads to a mosaic of complex subtelomere rearrangements inGenome research · 2023Article
- Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- Detection of Transgene Location in the CYP2A13/2B6/2F1-transgenic Mouse Model using Optical Genome Mapping Technology.Drug metabolism and disposition: the biological fate of chemicals · 2023Article
- NPGREAT: assembly of human subtelomere regions with the use of ultralong nanopore reads and linked-reads.BMC bioinformatics · 2022Article
- Telogator: a method for reporting chromosome-specific telomere lengths from long reads.Bioinformatics (Oxford, England) · 2022Article
- Article
- Architecture and evolution of subtelomeres in the unicellular green alga Chlamydomonas reinhardtii.Nucleic acids research · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.