The complete sequence of a human genome.
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
entrez:
31
3
2022
pubmed:
1
4
2022
medline:
6
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35357919
doi: 10.1126/science.abj6987
pmc: PMC9186530
mid: NIHMS1775562
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
44-53Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG010961
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM130151
Pays : United States
Organisme : NIMH NIH HHS
ID : DP2 MH119424
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA240199
Pays : United States
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009081
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA238758
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM123312
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008898
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200398
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM124041
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG010263
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG006677
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM133747
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007445
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010040
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NHGRI NIH HHS
ID : F31 HG011205
Pays : United States
Organisme : NIGMS NIH HHS
ID : F32 GM134558
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM129263
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA253481
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007234
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG006620
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002939
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG054712
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009190
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010485
Pays : United States
Organisme : NIDDK NIH HHS
ID : R24 DK106766
Pays : United States
Commentaires et corrections
Type : CommentIn
Type : CommentIn
Type : CommentIn
Type : CommentIn
Références
Bioinformatics. 2013 Oct 1;29(19):2487-9
pubmed: 23842809
Bioinformatics. 2015 Oct 15;31(20):3350-2
pubmed: 26099265
Am J Hum Genet. 2013 Aug 8;93(2):278-88
pubmed: 23910464
Genome Res. 2020 Sep;30(9):1291-1305
pubmed: 32801147
Mol Biol Evol. 2018 Jun 1;35(6):1547-1549
pubmed: 29722887
Nature. 2021 May;593(7857):101-107
pubmed: 33828295
J Mol Evol. 1980 Dec;16(2):111-20
pubmed: 7463489
Bioinformatics. 2018 Jul 1;34(13):i115-i123
pubmed: 29949971
Nat Biotechnol. 2020 Nov;38(11):1309-1316
pubmed: 32665660
Nat Rev Genet. 2020 Oct;21(10):597-614
pubmed: 32504078
Gene. 1999 Feb 4;227(1):79-88
pubmed: 9931447
Science. 2022 Apr;376(6588):eabj5089
pubmed: 35357915
PLoS One. 2009 Aug 12;4(8):e6602
pubmed: 19672304
Nat Methods. 2022 Jun;19(6):687-695
pubmed: 35361931
Reprod Biomed Online. 2014 Aug;29(2):245-50
pubmed: 24928354
Hum Mol Genet. 1996 May;5(5):581-90
pubmed: 8733123
Nat Biotechnol. 2015 Jun;33(6):623-30
pubmed: 26006009
Genome Res. 2017 May;27(5):677-685
pubmed: 27895111
Nat Methods. 2023 Mar;20(3):408-417
pubmed: 36658279
Cell. 2020 Feb 20;180(4):677-687.e16
pubmed: 32004458
Cell. 2022 Sep 1;185(18):3426-3440.e19
pubmed: 36055201
Bioinformatics. 2005 Sep 1;21 Suppl 2:ii79-85
pubmed: 16204131
Bioinformatics. 2008 Mar 1;24(5):637-44
pubmed: 18218656
Nat Methods. 2022 Jun;19(6):705-710
pubmed: 35365778
Nat Methods. 2018 Jun;15(6):461-468
pubmed: 29713083
Mol Biol Evol. 2013 Apr;30(4):772-80
pubmed: 23329690
Bioinformatics. 2017 Oct 01;33(19):3088-3090
pubmed: 28575171
Bioinformatics. 2008 Dec 15;24(24):2818-24
pubmed: 18952627
Genome Biol. 2020 Sep 24;21(1):253
pubmed: 32972461
J Mol Diagn. 2022 Mar;24(3):219-223
pubmed: 35041928
Nat Biotechnol. 2018 Apr;36(4):321-323
pubmed: 29553574
Bioinformatics. 2014 May 1;30(9):1312-3
pubmed: 24451623
Science. 2010 Sep 24;329(5999):1650-3
pubmed: 20724583
Nucleic Acids Res. 2018 Jul 27;46(13):6712-6725
pubmed: 29788454
Nat Methods. 2012 Nov;9(11):1107-12
pubmed: 23042453
Bioinformatics. 2020 Jul 1;36(Suppl_1):i75-i83
pubmed: 32657355
Nat Methods. 2021 Nov;18(11):1322-1332
pubmed: 34725481
Wellcome Open Res. 2019 Mar 11;4:50
pubmed: 32175479
Genome Biol. 2020 Sep 14;21(1):245
pubmed: 32928274
Nat Biotechnol. 2018 Nov;36(10):983-987
pubmed: 30247488
Annu Rev Genomics Hum Genet. 2021 Aug 31;22:81-102
pubmed: 33929893
Genome Res. 2014 Apr;24(4):697-707
pubmed: 24501022
Mol Biol Evol. 1987 Jul;4(4):406-25
pubmed: 3447015
Genome Res. 2017 May;27(5):737-746
pubmed: 28100585
Nat Protoc. 2017 Jun;12(6):1151-1176
pubmed: 28492527
Genes Dev. 2019 Dec 1;33(23-24):1688-1701
pubmed: 31727772
Bioinformatics. 2016 Jul 15;32(14):2103-10
pubmed: 27153593
Nature. 2020 Sep;585(7823):79-84
pubmed: 32663838
Sci Rep. 2018 Feb 16;8(1):3159
pubmed: 29453452
Mamm Genome. 2016 Dec;27(11-12):538-555
pubmed: 27538963
Nat Methods. 2019 Jan;16(1):88-94
pubmed: 30559433
Ann Hum Genet. 2020 Mar;84(2):125-140
pubmed: 31711268
Nature. 2021 Apr;592(7856):737-746
pubmed: 33911273
Nat Biotechnol. 2019 May;37(5):540-546
pubmed: 30936562
Nature. 2016 Oct 13;538(7624):201-206
pubmed: 27654912
Bioinformatics. 2020 Jun 1;36(12):3687-3692
pubmed: 32246826
Nat Rev Genet. 2004 May;5(5):345-54
pubmed: 15143317
Science. 2022 Apr;376(6588):eabl4178
pubmed: 35357911
Genome Biol. 2008;9(3):R55
pubmed: 18341692
Nat Biotechnol. 2019 Oct;37(10):1155-1162
pubmed: 31406327
Genome Res. 2017 May;27(5):722-736
pubmed: 28298431
F1000Res. 2015 Dec 30;4:1521
pubmed: 26925227
Nat Biotechnol. 2018 Oct 22;:
pubmed: 30346939
Genome Res. 2017 May;27(5):849-864
pubmed: 28396521
Oncogene. 2018 May;37(18):2351-2366
pubmed: 29429989
Nat Biotechnol. 2020 Sep;38(9):1044-1053
pubmed: 32686750
Trends Genet. 2019 Oct;35(10):734-742
pubmed: 31395390
Bioinformatics. 2020 Jul 1;36(Suppl_1):i111-i118
pubmed: 32657365
Nucleic Acids Res. 2002 Jun 1;30(11):2478-83
pubmed: 12034836
Science. 2022 Apr;376(6588):eabj6965
pubmed: 35357917
Nature. 2015 Jan 29;517(7536):608-11
pubmed: 25383537
Sci Adv. 2018 Feb 28;4(2):eaao0665
pubmed: 29503865
Bioinformatics. 2018 Sep 1;34(17):i748-i756
pubmed: 30423094
Genome Res. 2002 Jun;12(6):996-1006
pubmed: 12045153
Nat Methods. 2022 Jun;19(6):696-704
pubmed: 35361932
Genome Res. 2013 Dec;23(12):2003-12
pubmed: 23990606
Genome Res. 2018 Dec;28(12):1767-1778
pubmed: 30401733
Genome Biol. 2019 Dec 16;20(1):278
pubmed: 31842956
Nat Methods. 2021 Feb;18(2):170-175
pubmed: 33526886
Data Brief. 2019 Mar 08;24:103708
pubmed: 30989093
Science. 2017 Nov 3;358(6363):655-658
pubmed: 28982794
Genomics. 1988 Aug;3(2):100-9
pubmed: 3224978
Science. 2001 Feb 16;291(5507):1304-51
pubmed: 11181995
Nat Biotechnol. 2021 Mar;39(3):302-308
pubmed: 33288906
Science. 2022 Apr;376(6588):eabk3112
pubmed: 35357925
Mol Biol Evol. 2020 May 1;37(5):1362-1375
pubmed: 31960929
Nature. 2007 Oct 18;449(7164):851-61
pubmed: 17943122
Nature. 2004 May 27;429(6990):365-8
pubmed: 15164052
Genome Biol. 2020 Oct 16;21(1):265
pubmed: 33066802
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Nucleic Acids Res. 2019 Jan 8;47(D1):D766-D773
pubmed: 30357393
Genome Res. 2014 Dec;24(12):2066-76
pubmed: 25373144
Bioinformatics. 2020 Feb 15;36(4):1260-1261
pubmed: 31504176
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Bioinformatics. 2021 Jul 19;37(12):1639-1643
pubmed: 33320174
Nat Biotechnol. 2018 Apr;36(4):338-345
pubmed: 29431738
Genomics. 2002 Jan;79(1):58-62
pubmed: 11827458
Nature. 2001 Feb 15;409(6822):860-921
pubmed: 11237011
Sci Data. 2016 Jun 07;3:160025
pubmed: 27271295
Nature. 2004 Oct 21;431(7011):931-45
pubmed: 15496913
Genome Res. 2018 Jul;28(7):1029-1038
pubmed: 29884752
Science. 2022 Apr;376(6588):eabl3533
pubmed: 35357935
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Genome Res. 2005 Aug;15(8):1079-85
pubmed: 16024823
Bioinformatics. 2021 Aug 25;37(16):2476-2478
pubmed: 33475133
Nat Methods. 2017 Apr;14(4):417-419
pubmed: 28263959
Genome Res. 2011 Sep;21(9):1512-28
pubmed: 21665927
Genome Biol. 2018 Aug 24;19(1):125
pubmed: 30143029
Bioinformatics. 2018 Sep 15;34(18):3094-3100
pubmed: 29750242
Genome Res. 2007 Nov;17(11):1690-6
pubmed: 17895424
Am J Hum Genet. 1996 Jul;59(1):167-75
pubmed: 8659523
Chromosome Res. 2011 May;19(4):457-70
pubmed: 21484447
Nat Genet. 1992 Sep;2(1):26-30
pubmed: 1363881
Bioinformatics. 2017 Oct 01;33(19):3094-3095
pubmed: 28645150
J Open Source Softw. 2019;4(33):
pubmed: 31535074
Science. 2000 Mar 24;287(5461):2196-204
pubmed: 10731133
Science. 2009 Jan 2;323(5910):133-8
pubmed: 19023044
J Mol Evol. 1993 Nov;37(5):464-75
pubmed: 8283478
Nat Methods. 2018 Aug;15(8):595-597
pubmed: 30013044