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The complete sequence of a human genome.

Authors :
Nurk S
Koren S
Rhie A
Rautiainen M
Bzikadze AV
Mikheenko A
Vollger MR
Altemose N
Uralsky L
Gershman A
Aganezov S
Hoyt SJ
Diekhans M
Logsdon GA
Alonge M
Antonarakis SE
Borchers M
Bouffard GG
Brooks SY
Caldas GV
Chen NC
Cheng H
Chin CS
Chow W
de Lima LG
Dishuck PC
Durbin R
Dvorkina T
Fiddes IT
Formenti G
Fulton RS
Fungtammasan A
Garrison E
Grady PGS
Graves-Lindsay TA
Hall IM
Hansen NF
Hartley GA
Haukness M
Howe K
Hunkapiller MW
Jain C
Jain M
Jarvis ED
Kerpedjiev P
Kirsche M
Kolmogorov M
Korlach J
Kremitzki M
Li H
Maduro VV
Marschall T
McCartney AM
McDaniel J
Miller DE
Mullikin JC
Myers EW
Olson ND
Paten B
Peluso P
Pevzner PA
Porubsky D
Potapova T
Rogaev EI
Rosenfeld JA
Salzberg SL
Schneider VA
Sedlazeck FJ
Shafin K
Shew CJ
Shumate A
Sims Y
Smit AFA
Soto DC
Sović I
Storer JM
Streets A
Sullivan BA
Thibaud-Nissen F
Torrance J
Wagner J
Walenz BP
Wenger A
Wood JMD
Xiao C
Yan SM
Young AC
Zarate S
Surti U
McCoy RC
Dennis MY
Alexandrov IA
Gerton JL
O'Neill RJ
Timp W
Zook JM
Schatz MC
Eichler EE
Miga KH
Phillippy AM
Source :
Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. 44-53. Date of Electronic Publication: 2022 Mar 31.
Publication Year :
2022

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.

Details

Language :
English
ISSN :
1095-9203
Volume :
376
Issue :
6588
Database :
MEDLINE
Journal :
Science (New York, N.Y.)
Publication Type :
Academic Journal
Accession number :
35357919
Full Text :
https://doi.org/10.1126/science.abj6987