The complete sequence of a human genome
Sergey Nurk, Sergey Koren, Adam M. Phillippy · Large collaboration (Telomere-to-Telomere (T2T) Consortium); lead author Sergey Nurk, senior/corresponding authors include Sergey Koren, Karen H. Miga, Evan E. Eichler, and Adam M. Phillippy.
Summary
The Telomere-to-Telomere (T2T) Consortium reports T2T-CHM13, the first essentially gapless assembly of a human genome (all chromosomes except Y), totaling about 3.055 billion base pairs. The assembly resolves previously unfinished heterochromatic and repetitive regions, including centromeric satellite arrays, segmental duplications, and the short arms of the acrocentric chromosomes. It adds nearly 200 million base pairs of new sequence and corrects errors in prior reference assemblies.
Key findings
- Produced a complete 3.055 Gb assembly (T2T-CHM13) closing essentially all gaps in the prior reference except chromosome Y.
- Added ~200 Mb of new sequence containing 1,956 gene predictions, 99 of them predicted protein-coding.
- Resolved complex regions (centromeric satellites, recent segmental duplications, acrocentric short arms), opening them to functional and variant analysis.
Subjects & keywords
Cite this paper
Sergey Nurk, Sergey Koren, & Adam M. Phillippy [Large collaboration (Telomere-to-Telomere (T2T) Consortium); lead author Sergey Nurk, senior/corresponding authors include Sergey Koren, Karen H. Miga, Evan E. Eichler, and Adam M. Phillippy.] (2022). The complete sequence of a human genome. Science. https://doi.org/10.1126/science.abj6987
@article{nurk2022complete,
author = {Sergey Nurk and Sergey Koren and Adam M. Phillippy and {Large collaboration (Telomere-to-Telomere (T2T) Consortium); lead author Sergey Nurk, senior/corresponding authors include Sergey Koren, Karen H. Miga, Evan E. Eichler, and Adam M. Phillippy.}},
title = {The complete sequence of a human genome},
journal = {Science},
year = {2022},
doi = {10.1126/science.abj6987},
url = {https://doi.org/10.1126/science.abj6987}
}