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American Association for the Advancement of Science, Science, 6588(376), p. 44-53, 2022

DOI: 10.1126/science.abj6987

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The complete sequence of a human genome

Journal article published in 2022 by Sergey Nurk ORCID, Sergey Koren ORCID, Arang Rhie ORCID, Mikko Rautiainen ORCID, Andrey V. Bzikadze ORCID, Alla Mikheenko, Mitchell R. Vollger ORCID, Nicolas Altemose ORCID, Lev Uralsky ORCID, Ariel Gershman ORCID, Sergey Aganezov ORCID, Savannah J. Hoyt ORCID, Mark Diekhans ORCID, Glennis A. Logsdon ORCID, Michael Alonge ORCID and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Data provided by SHERPA/RoMEO

Abstract

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.