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- Ariel Gershman
- Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
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- Michael E. G. Sauria
- Department of Biology and Computer Science, Johns Hopkins University, Baltimore, MD, USA.
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- Xavi Guitart
- Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
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- Mitchell R. Vollger
- Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
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- Paul W. Hook
- Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
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- Savannah J. Hoyt
- Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
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- Miten Jain
- UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
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- Alaina Shumate
- Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
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- Roham Razaghi
- Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
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- Sergey Koren
- Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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- Nicolas Altemose
- Department of Bioengineering, University of California Berkeley, Berkeley, CA, USA.
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- Gina V. Caldas
- Department of Molecular and Cell Biology, University of California Berkeley, Berkeley CA, USA.
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- Glennis A. Logsdon
- Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
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- Arang Rhie
- Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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- Evan E. Eichler
- Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
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- Michael C. Schatz
- Department of Biology and Computer Science, Johns Hopkins University, Baltimore, MD, USA.
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- Rachel J. O’Neill
- Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
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- Adam M. Phillippy
- Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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- Karen H. Miga
- UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
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- Winston Timp
- Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
説明
<jats:p>The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has resolved complex regions of the genome, including repetitive and homologous regions. Here, we present a high-resolution epigenetic study of previously unresolved sequences, representing entire acrocentric chromosome short arms, gene family expansions, and a diverse collection of repeat classes. This resource precisely maps CpG methylation (32.28 million CpGs), DNA accessibility, and short-read datasets (166,058 previously unresolved chromatin immunoprecipitation sequencing peaks) to provide evidence of activity across previously unidentified or corrected genes and reveals clinically relevant paralog-specific regulation. Probing CpG methylation across human centromeres from six diverse individuals generated an estimate of variability in kinetochore localization. This analysis provides a framework with which to investigate the most elusive regions of the human genome, granting insights into epigenetic regulation.</jats:p>
収録刊行物
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- Science
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Science 376 (6588), eabj5089-, 2022-04
American Association for the Advancement of Science (AAAS)