Epigenetic patterns in a complete human 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…

• HH
  Howard Hughes Medical Institute
• DR
  Damon Runyon Cancer Research Foundation
• UO
  University of Pittsburgh
• NI
  National Institutes of Health

  Awards: 1R01HG011274-01, R24 DK106766, R01HG009190, GM134558, DK106766, U24HG010263
• NH
  National Human Genome Research Institute

  Awards: 1R01HG011274, R01HG009190, 1R01HG011274-01, 1U01HG010971, U24HG010263