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

Classification and monomer-by-monomer annotation of suprachromosomal family 1 alpha satellite higher-order repeats in hg38 human genome assembly

Lev I. Uralsky, V.A. Shepelev, A.A. Alexandrov, Yuri B. Yurov, Evgeny Ivanovich Rogaev, Ivan A. Alexandrov

The paper annotates and classifies suprachromosomal family 1 alpha satellite higher-order repeats in the hg38 human genome, discovering new divergent HORs and introducing a naming system for their classification.

Data in Brief · Mar 8, 2019Peer-reviewedBioinformatics