The complete sequence of a human genome.

Authors

Sergey Nurk
Sergey Koren
Arang Rhie
Mikko Rautiainen
Andrey V Bzikadze
Alla Mikheenko
Mitchell R Vollger
Nicolas Altemose
Lev Uralsky
Ariel Gershman
Sergey Aganezov
Savannah J Hoyt
Mark Diekhans
Glennis A Logsdon
Michael Alonge
Stylianos E Antonarakis
Matthew Borchers
Gerard G Bouffard
Shelise Y Brooks
Gina V Caldas
Nae-Chyun Chen
Haoyu Cheng
Chen-Shan Chin
William Chow
Leonardo G de Lima
Philip C Dishuck
Richard Durbin
Tatiana Dvorkina
Ian T Fiddes
Giulio Formenti
Robert S Fulton
Arkarachai Fungtammasan
Erik Garrison
Patrick G S Grady
Tina A Graves-Lindsay
Ira M Hall
Nancy F Hansen
Gabrielle A Hartley
Marina Haukness
Kerstin Howe
Michael W Hunkapiller
Chirag Jain
Miten Jain
Erich D Jarvis
Peter Kerpedjiev
Melanie Kirsche
Mikhail Kolmogorov
Jonas Korlach
Milinn Kremitzki
Heng Li
Valerie V Maduro
Tobias Marschall
Ann M McCartney
Jennifer McDaniel
Danny E Miller
James C Mullikin
Eugene W Myers
Nathan D Olson
Benedict Paten
Paul Peluso
Pavel A Pevzner
David Porubsky
Tamara Potapova
Evgeny I Rogaev
Jeffrey A Rosenfeld
Steven L Salzberg
Valerie A Schneider
Fritz J Sedlazeck
Kishwar Shafin
Colin J Shew
Alaina Shumate
Ying Sims
Arian F A Smit, Institute for Systems Biology, Seattle, WA, USA
Daniela C Soto
Ivan Sović
Jessica Storer, Institute for Systems Biology, Seattle, WA, 98109, USAFollow
Aaron Streets
Beth A Sullivan
Françoise Thibaud-Nissen
James Torrance
Justin Wagner
Brian P Walenz
Aaron Wenger
Jonathan M D Wood
Chunlin Xiao
Stephanie M Yan
Alice C Young
Samantha Zarate
Urvashi Surti
Rajiv C McCoy
Megan Y Dennis
Ivan A Alexandrov
Jennifer L Gerton
Rachel J O'Neill
Winston Timp
Justin M Zook
Michael C Schatz
Evan E Eichler
Karen H Miga
Adam M Phillippy

Document Type

Article

Publication Date

4-1-2022

Publication Title

Science

Keywords

isb; seattle; washington; genomics; Cell Line; Chromosomes, Artificial, Bacterial; Chromosomes, Human; Genome, Human; Human Genome Project; Humans; Reference Values; Sequence Analysis, DNA

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.

Department

Institute for Systems Biology

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