The complete sequence of a human genome

被引：1618

作者：

Nurk, Sergey ^{[1
]}

Koren, Sergey ^{[1
]}

Rhie, Arang ^{[1
]}

Rautiainen, Mikko ^{[1
]}

Bzikadze, Andrey, V ^{[2
]}

Mikheenko, Alla ^{[3
]}

Vollger, Mitchell R. ^{[4
]}

Altemose, Nicolas ^{[5
]}

Uralsky, Lev ^{[6
,7
]}

Gershman, Ariel ^{[8
]}

Aganezov, Sergey ^{[9
,58
]}

Hoyt, Savannah J. ^{[10
,11
]}

Diekhans, Mark ^{[12
]}

Logsdon, Glennis A. ^{[4
]}

Alonge, Michael ^{[9
]}

Antonarakis, Stylianos E. ^{[13
]}

Borchers, Matthew ^{[14
]}

Bouffard, Gerard G. ^{[15
]}

Brooks, Shelise Y. ^{[15
]}

Caldas, Gina, V ^{[16
]}

Chen, Nae-Chyun ^{[9
]}

Cheng, Haoyu ^{[17
,18
]}

Chin, Chen-Shan ^{[19
]}

Chow, William ^{[20
]}

de Lima, Leonardo G. ^{[14
]}

Dishuck, Philip C. ^{[4
]}

Durbin, Richard ^{[20
,21
]}

Dvorkina, Tatiana ^{[3
]}

Fiddes, Ian T. ^{[22
]}

Formenti, Giulio ^{[23
,24
,25
]}

Fulton, Robert S. ^{[26
]}

Fungtammasan, Arkarachai ^{[19
]}

Garrison, Erik ^{[12
,27
]}

Grady, Patrick G. S. ^{[10
,11
]}

Graves-Lindsay, Tina A. ^{[28
]}

Hall, Ira M. ^{[29
]}

Hansen, Nancy F. ^{[30
]}

Hartley, Gabrielle A. ^{[10
,11
]}

Haukness, Marina ^{[12
]}

Howe, Kerstin ^{[20
]}

Hunkapiller, Michael W. ^{[31
]}

Jain, Chirag ^{[1
,32
]}

Jain, Miten ^{[12
]}

Jarvis, Erich D. ^{[23
,24
,25
]}

Kerpedjiev, Peter ^{[33
]}

Kirsche, Melanie ^{[9
]}

Kolmogorov, Mikhail ^{[34
]}

Korlach, Jonas ^{[31
]}

Kremitzki, Milinn ^{[28
]}

Li, Heng ^{[17
,18
]}

机构：

[1] NHGRI, Genome Informat Sect, Computat & Stat Genom Branch, NIH, Bethesda, MD 20892 USA

[2] Univ Calif San Diego, Grad Program Bioinformat & Syst Biol, La Jolla, CA 92093 USA

[3] St Petersburg State Univ, Inst Translat Biomed, Ctr Algorithm Biotechnol, St Petersburg, Russia

[4] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[5] Univ Calif Berkeley, Dept Bioengn, Berkeley, CA 94720 USA

[6] Sirius Univ Sci & Technol, Soci, Russia

[7] Vavilov Inst Gen Genet, Moscow, Russia

[8] Johns Hopkins Univ, Dept Mol Biol & Genet, Baltimore, MD USA

[9] Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA

[10] Univ Connecticut, Inst Syst Genom, Storrs, CT USA

[11] Univ Connecticut, Dept Mol & Cell Biol, Storrs, CT USA

[12] Univ Calif Santa Cruz, UC Santa Cruz Genom Inst, Santa Cruz, CA 95064 USA

[13] Univ Geneva Med Sch, Geneva, Switzerland

[14] Stowers Inst Med Res, Kansas City, MO USA

[15] NHGRI, NIH Intramural SNuencing Ctr, NIH, Bethesda, MD 20892 USA

[16] Univ Calif Berkeley, Dept Mol & Cell Biol, 229 Stanley Hall, Berkeley, CA 94720 USA

[17] Dana Farber Canc Inst, Dept Data Sci, Boston, MA 02115 USA

[18] Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA

[19] DNAnexus, Mountain View, CA USA

[20] Wellcome Sanger Inst, Cambridge, England

[21] Univ Cambridge, Dept Genet, Cambridge, England

[22] Inscripta, Boulder, CO USA

[23] Rockefeller Univ, Lab Neurogenet Language, 1230 York Ave, New York, NY 10021 USA

[24] Rockefeller Univ, Vertebrate Genome Lab, 1230 York Ave, New York, NY 10021 USA

[25] Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10021 USA

[26] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[27] Univ Tennessee, Hlth Sci Ctr, Memphis, TN USA

[28] Washington Univ, McDonnell Genome Inst, St Louis, MO USA

[29] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

[30] NHGRI, Comparat Genom Anal Unit, Canc Genet & Comparat Genom Branch, NIH, Bethesda, MD USA

[31] Pacific Biosci, Menlo Pk, CA USA

[32] Indian Inst Sci, Dept Computat & Data Sci, Bangalore, Karnataka, India

[33] Reservoir Genom LLC, Oakland, CA USA

[34] Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA

[35] NHGRI, Undiagnosed Dis Program, NIH, Bethesda, MD 20892 USA

[36] Heinrich Heine Univ Dusseldorf, Med Fac, Inst Med Biometry & Bioinformat, Dusseldorf, Germany

[37] NIST, Biosyst & Biomat Div, Gaithersburg, MD USA

[38] Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA

[39] Seattle Childrens Hosp, Seattle, WA USA

[40] Max Planck Inst Mol Cell Biol & Genet, Dresden, Germany

[41] Univ Massachusetts Med Sch, Dept Psychiat, Worcester, MA USA

[42] Lomonosov Moscow State Univ, Fac Biol, Moscow, Russia

[43] Canc Inst New Jersey, New Brunswick, NJ USA

[44] Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD USA

[45] NIH, Natl Ctr Biotechnol Informatiat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA

[46] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[47] Univ Calif Davis, Dept Biochem & Mol Med, MIND Inst, Genome Ctr, Davis, CA 95616 USA

[48] Inst Syst Biol, Seattle, WA USA

[49] Digital BioL Doo, Ivanic Grad, Croatia

[50] Chan Zuckerberg Biohub, San Francisco, CA USA

来源：

SCIENCE | 2022年 / 376卷 / 6588期

基金：

美国国家科学基金会; 瑞士国家科学基金会; 欧洲研究理事会; 俄罗斯科学基金会;

关键词：

GENE; ALIGNMENT; REARRANGEMENTS; ALGORITHMS; ASSEMBLIES; CENTROMERE; ANCESTRY; ENABLES; QUALITY; GRAPHS;

D O I：

10.1126/science.abj6987

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：44 / +

页数：84

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