Epigenetic patterns in a complete human genome

A Gershman, MEG Sauria, X Guitart, MR Vollger… - Science, 2022 - science.org
A Gershman, MEG Sauria, X Guitart, MR Vollger, PW Hook, SJ Hoyt, M Jain, A Shumate…
Science, 2022science.org
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 …
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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