4.8 Article

Epigenetic patterns in a complete human genome

期刊

SCIENCE
卷 376, 期 6588, 页码 58-+

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AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.abj5089

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资金

  1. National Institutes of Health [R01HG009190, F32 GM134558, R24 DK106766-01A1, U24HG010263, 1R01HG011274-01, 1U01HG010971]
  2. National Human Genome Research Institute
  3. Damon Runyon Postdoctoral Fellowship
  4. PEW Latin American Fellowship
  5. Howard Hughes Medical Institute Hanna Gray Fellowship

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This study presents a high-resolution epigenetic analysis of the telomere-to-telomere human reference genome, revealing important insights into gene activity, clinical regulation, and providing a framework for investigating elusive regions of the genome.
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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