The complete sequence of a human genome

Abstract

In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the euchromatic fraction of the genome, the heterochromatin and many other complex regions were left unfinished or erroneous. Addressing this remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3.055 billion base pair (bp) sequence of a human genome, representing the largest improvement to the human reference genome since its initial release. The new T2T-CHM13 reference includes gapless assemblies for all 22 autosomes plus chromosome X, corrects numerous errors, and introduces nearly 200 million bp of novel sequence containing 2,226 paralogous gene copies, 115 of which are predicted to be protein coding. The newly completed regions include all centromeric satellite arrays and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies for the first time.

Competing Interest Statement

AF and CSC are employees of DNAnexus; IS, JK, MWH, PP, and AW are employees of Pacific Biosciences; FJS has received travel funds to speak at events hosted by Pacific Biosciences; SK and FJS have received travel funds to speak at events hosted by Oxford Nanopore Technologies. WT has licensed two patents to Oxford Nanopore Technologies (US 8748091 and 8394584).

Footnotes

* https://github.com/marbl/CHM13

* https://github.com/marbl/CHM13-issues

* http://genome.ucsc.edu/cgi-bin/hgTracks?genome=t2t-chm13-v1.0&hubUrl=http://t2t.gi.ucsc.edu/chm13/hub/hub.txt

* https://resgen.io/paper-data/T2T-Nurk-et-al-2021/views/t2t-identity

* https://www.ncbi.nlm.nih.gov/bioproject/559484