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Epigenetic patterns in a complete human genome.
Gershman, Ariel; Sauria, Michael E G; Guitart, Xavi; Vollger, Mitchell R; Hook, Paul W; Hoyt, Savannah J; Jain, Miten; Shumate, Alaina; Razaghi, Roham; Koren, Sergey; Altemose, Nicolas; Caldas, Gina V; Logsdon, Glennis A; Rhie, Arang; Eichler, Evan E; Schatz, Michael C; O'Neill, Rachel J; Phillippy, Adam M; Miga, Karen H; Timp, Winston.
Afiliación
  • Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
  • Sauria MEG; Department of Biology and Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Guitart X; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Hook PW; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Hoyt SJ; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
  • Jain M; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Shumate A; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Razaghi R; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Koren S; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Altemose N; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Caldas GV; Department of Bioengineering, University of California Berkeley, Berkeley, CA, USA.
  • Logsdon GA; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley CA, USA.
  • Rhie A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Eichler EE; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Schatz MC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • O'Neill RJ; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
  • Phillippy AM; Department of Biology and Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Miga KH; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
  • Timp W; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
Science ; 376(6588): eabj5089, 2022 04.
Article en En | MEDLINE | ID: mdl-35357915
ABSTRACT
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.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Genoma Humano / Islas de CpG / Metilación de ADN / Epigénesis Genética Límite: Humans Idioma: En Revista: Science Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Genoma Humano / Islas de CpG / Metilación de ADN / Epigénesis Genética Límite: Humans Idioma: En Revista: Science Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos