The paper uses a complete human genome assembly to analyze epigenetic patterns in previously uncharacterized genomic regions, revealing methylation and chromatin accessibility features in satellite DNA and centromeres.

Science · Mar 31, 2022Peer-reviewedGenomics

The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell Robert Vollger, Nicolas Altemose, Lev I. Uralsky, Ariel Gershman, Sergey S. Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, , Adam M. Phillippy

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

Science · Mar 31, 2022Peer-reviewedGenomics✦ In-depth digest

Complete genomic and epigenetic maps of human centromeres

Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina Viviana Caldas, Savannah J. Hoyt, Lev I. Uralsky, Fedor Ryabov, Colin J. Shew, Michael E.G. Sauria, Matthew Borchers, Ariel Gershman, Alla Mikheenko, Valery A. Shepelev, , Karen H. Miga

The paper presents a comprehensive analysis of fully assembled human centromeres, revealing their architecture, variation, and evolutionary dynamics at high resolution.

Science · Mar 31, 2022Peer-reviewedGenomics