The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

A complete, telomere-to-telomere human genome sequence presents new opportunities for evolutionary genomics

Y Mao, G Zhang - Nature methods, 2022 - nature.com
The release of the first telomere-to-telomere (T2T) human genome sequence marks a
milestone for human genomics research and holds promise of complete genomes for …

Epigenetic patterns in a complete human genome

A Gershman, MEG Sauria, X Guitart, MR Vollger… - Science, 2022 - science.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 …

The sequence of the human genome

JC Venter, MD Adams, EW Myers, PW Li, RJ Mural… - science, 2001 - science.org
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human
genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion …

[HTML][HTML] Characterization of large-scale genomic differences in the first complete human genome

X Yang, X Wang, Y Zou, S Zhang, M Xia, L Fu… - Genome biology, 2023 - Springer
Background The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13)
release is a milestone in human genomics. The T2T-CHM13 genome assembly extends our …

[HTML][HTML] Telomere-to-telomere assembly of a complete human X chromosome

KH Miga, S Koren, A Rhie, MR Vollger, A Gershman… - Nature, 2020 - nature.com
After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

[HTML][HTML] Human Genome Project: Twenty-five years of big biology

ED Green, JD Watson, FS Collins - Nature, 2015 - nature.com
Human Genome Project: Twenty-five years of big biology | Nature Skip to main content Thank
you for visiting nature.com. You are using a browser version with limited support for CSS. To …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Complete genomic and epigenetic maps of human centromeres

N Altemose, GA Logsdon, AV Bzikadze, P Sidhwani… - Science, 2022 - science.org
Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium - Nature, 2004 - nature.com
The sequence of the human genome encodes the genetic instructions for human
physiology, as well as rich information about human evolution. In 2001, the International …