TY - JOUR T1 - The complete sequence of a human genome JF - bioRxiv DO - 10.1101/2021.05.26.445798 SP - 2021.05.26.445798 AU - Sergey Nurk AU - Sergey Koren AU - Arang Rhie AU - Mikko Rautiainen AU - Andrey V. Bzikadze AU - Alla Mikheenko AU - Mitchell R. Vollger AU - Nicolas Altemose AU - Lev Uralsky AU - Ariel Gershman AU - Sergey Aganezov AU - Savannah J. Hoyt AU - Mark Diekhans AU - Glennis A. Logsdon AU - Michael Alonge AU - Stylianos E. Antonarakis AU - Matthew Borchers AU - Gerard G. Bouffard AU - Shelise Y. Brooks AU - Gina V. Caldas AU - Haoyu Cheng AU - Chen-Shan Chin AU - William Chow AU - Leonardo G. de Lima AU - Philip C. Dishuck AU - Richard Durbin AU - Tatiana Dvorkina AU - Ian T. Fiddes AU - Giulio Formenti AU - Robert S. Fulton AU - Arkarachai Fungtammasan AU - Erik Garrison AU - Patrick G.S. Grady AU - Tina A. Graves-Lindsay AU - Ira M. Hall AU - Nancy F. Hansen AU - Gabrielle A. Hartley AU - Marina Haukness AU - Kerstin Howe AU - Michael W. Hunkapiller AU - Chirag Jain AU - Miten Jain AU - Erich D. Jarvis AU - Peter Kerpedjiev AU - Melanie Kirsche AU - Mikhail Kolmogorov AU - Jonas Korlach AU - Milinn Kremitzki AU - Heng Li AU - Valerie V. Maduro AU - Tobias Marschall AU - Ann M. McCartney AU - Jennifer McDaniel AU - Danny E. Miller AU - James C. Mullikin AU - Eugene W. Myers AU - Nathan D. Olson AU - Benedict Paten AU - Paul Peluso AU - Pavel A. Pevzner AU - David Porubsky AU - Tamara Potapova AU - Evgeny I. Rogaev AU - Jeffrey A. Rosenfeld AU - Steven L. Salzberg AU - Valerie A. Schneider AU - Fritz J. Sedlazeck AU - Kishwar Shafin AU - Colin J. Shew AU - Alaina Shumate AU - Yumi Sims AU - Arian F. A. Smit AU - Daniela C. Soto AU - Ivan Sović AU - Jessica M. Storer AU - Aaron Streets AU - Beth A. Sullivan AU - Françoise Thibaud-Nissen AU - James Torrance AU - Justin Wagner AU - Brian P. Walenz AU - Aaron Wenger AU - Jonathan M. D. Wood AU - Chunlin Xiao AU - Stephanie M. Yan AU - Alice C. Young AU - Samantha Zarate AU - Urvashi Surti AU - Rajiv C. McCoy AU - Megan Y. Dennis AU - Ivan A. Alexandrov AU - Jennifer L. Gerton AU - Rachel J. O’Neill AU - Winston Timp AU - Justin M. Zook AU - Michael C. Schatz AU - Evan E. Eichler AU - Karen H. Miga AU - Adam M. Phillippy Y1 - 2021/01/01 UR - http://biorxiv.org/content/early/2021/05/27/2021.05.26.445798.abstract N2 - 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 StatementAF 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). ER -