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Haplotype Diversity and Sequence Heterogeneity of Human Telomeres

Kirill Grigorev, Jonathan Foox, Daniela Bezdan, Daniel Butler, Jared J. Luxton, Jake Reed, Cem Meydan, Susan M. Bailey, View ORCID ProfileChristopher E. Mason
doi: https://doi.org/10.1101/2020.01.31.929307
Kirill Grigorev
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USAThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, USA
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Jonathan Foox
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USAThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, USAThe Feil Family Brain and Mind Research Institute, New York, New York, USA
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Daniela Bezdan
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USAThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, USAThe Feil Family Brain and Mind Research Institute, New York, New York, USA
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Daniel Butler
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USA
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Jared J. Luxton
Department of Environmental and Radiological Health Sciences, Colorado State University, Fort Collins, COCell and Molecular Biology Program, Colorado State University, Fort Collins, CO
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Jake Reed
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USA
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Cem Meydan
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USAThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, USAThe Feil Family Brain and Mind Research Institute, New York, New York, USA
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Susan M. Bailey
Department of Environmental and Radiological Health Sciences, Colorado State University, Fort Collins, COCell and Molecular Biology Program, Colorado State University, Fort Collins, CO
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  • For correspondence: susan.bailey@colostate.edu chm2042@med.cornell.edu
Christopher E. Mason
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, USAThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, USAThe Feil Family Brain and Mind Research Institute, New York, New York, USAThe WorldQuant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, NY, USA
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  • ORCID record for Christopher E. Mason
  • For correspondence: susan.bailey@colostate.edu chm2042@med.cornell.edu
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Abstract

Telomeres are regions of repetitive nucleotide sequences capping the ends of eukaryotic chromosomes that protect against deterioration, whose lengths can be correlated with age and disease risk factors. Given their length and repetitive nature, telomeric regions are not easily reconstructed from short read sequencing, making telomere sequence resolution a very costly and generally intractable problem. Recently, long-read sequencing, with read lengths measuring in hundreds of Kbp, has made it possible to routinely read into telomeric regions and inspect their structure. Here, we describe a framework for extracting telomeric reads from single-molecule sequencing experiments, describing their sequence variation and motifs, and for haplotype inference. We find that long telomeric stretches can be accurately captured with long-read sequencing, observe extensive sequence heterogeneity of human telomeres, discover and localize non-canonical motifs (both previously reported as well as novel), and report the first motif composition maps of human telomeric diplotypes on a multi-Kbp scale.

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  • ↵# Co-first authors

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted January 31, 2020.
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Haplotype Diversity and Sequence Heterogeneity of Human Telomeres
Kirill Grigorev, Jonathan Foox, Daniela Bezdan, Daniel Butler, Jared J. Luxton, Jake Reed, Cem Meydan, Susan M. Bailey, Christopher E. Mason
bioRxiv 2020.01.31.929307; doi: https://doi.org/10.1101/2020.01.31.929307
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Haplotype Diversity and Sequence Heterogeneity of Human Telomeres
Kirill Grigorev, Jonathan Foox, Daniela Bezdan, Daniel Butler, Jared J. Luxton, Jake Reed, Cem Meydan, Susan M. Bailey, Christopher E. Mason
bioRxiv 2020.01.31.929307; doi: https://doi.org/10.1101/2020.01.31.929307

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