Telomere-to-telomere assembly of a complete human X chromosome.


Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
09 2020
Historique:
received: 30 07 2019
accepted: 29 05 2020
pubmed: 15 7 2020
medline: 6 10 2020
entrez: 15 7 2020
Statut: ppublish

Résumé

After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist

Identifiants

pubmed: 32663838
doi: 10.1038/s41586-020-2547-7
pii: 10.1038/s41586-020-2547-7
pmc: PMC7484160
mid: NIHMS1599394
doi:

Substances chimiques

DNA, Satellite 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

79-84

Subventions

Organisme : NHGRI NIH HHS
ID : 2U41HG007234
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007445
Pays : United States
Organisme : Medical Research Council
ID : MR/S035362/1
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA238758
Pays : United States
Organisme : NIH HHS
ID : HG002385
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA014236
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009190
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : Medical Research Council
ID : MR/M501621/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J014370/1
Pays : United Kingdom
Organisme : NIH HHS
ID : HG010169
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM124041
Pays : United States
Organisme : NIH HHS
ID : U01 1U01HG010971
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL137183
Pays : United States
Organisme : NIMH NIH HHS
ID : DP2 MH119424
Pays : United States
Organisme : NIH HHS
ID : U54 1U54HG007990
Pays : United States
Organisme : NLM NIH HHS
ID : T32 LM012419
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 1U01HL137183
Pays : United States
Organisme : NIH HHS
ID : 1F32GM134558-01
Pays : United States
Organisme : Wellcome Trust
ID : 212965/Z/18/Z
Pays : United Kingdom
Organisme : Howard Hughes Medical Institute
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 : R01 CA181308
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG007990
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : R44 HG008118
Pays : United States

Commentaires et corrections

Type : CommentIn

Références

Nat Biotechnol. 2018 Apr;36(4):321-323
pubmed: 29553574
Curr Protoc Mol Biol. 2015 Jan 05;109:21.29.1-21.29.9
pubmed: 25559105
Genome Res. 2017 May;27(5):722-736
pubmed: 28298431
Genome Res. 2008 Aug;18(8):1259-69
pubmed: 18456864
Nat Biotechnol. 2018 Apr;36(4):338-345
pubmed: 29431738
Nat Methods. 2018 Aug;15(8):595-597
pubmed: 30013044
Nat Rev Genet. 2013 Mar;14(3):157-67
pubmed: 23358380
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Nat Rev Genet. 2010 Jun;11(6):446-50
pubmed: 20479774
Nat Biotechnol. 2020 Nov;38(11):1309-1316
pubmed: 32665660
Genome Res. 2018 Oct;28(10):1589-1599
pubmed: 30232196
Genome Res. 2017 May;27(5):677-685
pubmed: 27895111
Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):E4504-12
pubmed: 27432957
Genome Res. 2017 May;27(5):757-767
pubmed: 28381613
Elife. 2019 Jun 25;8:
pubmed: 31237235
Science. 2001 Oct 5;294(5540):109-15
pubmed: 11588252
Genomics. 1989 Nov;5(4):810-21
pubmed: 2591964
Nucleic Acids Res. 1979 Jun 11;6(7):2601-10
pubmed: 461197
Genome Biol. 2012 Oct 03;13(10):R83
pubmed: 23034175
Nat Rev Genet. 2009 Oct;10(10):669-80
pubmed: 19736561
Nature. 1978 Nov 2;276(5683):92-4
pubmed: 105293
Nat Methods. 2012 Nov;9(11):1107-12
pubmed: 23042453
Bioinformatics. 2020 Jul 1;36(Suppl_1):i75-i83
pubmed: 32657355
Genome Inform. 2009 Oct;23(1):205-11
pubmed: 20180275
Nat Methods. 2017 Apr;14(4):411-413
pubmed: 28218897
Genome Res. 2014 Apr;24(4):697-707
pubmed: 24501022
Science. 2018 Jun 8;360(6393):
pubmed: 29880660
Am J Hum Genet. 1975 Mar;27(2):233-9
pubmed: 1124767
Nucleic Acids Res. 1987 Sep 25;15(18):7549-69
pubmed: 3658703
Genome Res. 2019 Jun;29(6):954-960
pubmed: 31064768
Nat Methods. 2019 Jan;16(1):88-94
pubmed: 30559433
Ann Hum Genet. 2020 Mar;84(2):125-140
pubmed: 31711268
Nat Biotechnol. 2019 May;37(5):540-546
pubmed: 30936562
Genome Res. 2016 Nov;26(11):1575-1587
pubmed: 27472961
Genome Res. 2017 May;27(5):849-864
pubmed: 28396521
Nature. 2005 Mar 17;434(7031):325-37
pubmed: 15772651
Nat Methods. 2020 Dec;17(12):1191-1199
pubmed: 33230324
Nature. 2015 Jan 29;517(7536):608-11
pubmed: 25383537
Proc Natl Acad Sci U S A. 1989 Dec;86(23):9394-8
pubmed: 2594775
Curr Opin Genet Dev. 2009 Jun;19(3):196-204
pubmed: 19477115
Nat Methods. 2008 Jul;5(7):621-8
pubmed: 18516045
Cytogenet Cell Genet. 1996;74(1-2):113-7
pubmed: 8893815
Nature. 2004 May 27;429(6990):365-8
pubmed: 15164052
Genome Res. 2014 Dec;24(12):2066-76
pubmed: 25373144
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Nature. 2001 Feb 15;409(6822):860-921
pubmed: 11237011
Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14440-4
pubmed: 10588724
Nat Methods. 2015 Aug;12(8):733-5
pubmed: 26076426
Nature. 2004 Oct 21;431(7011):931-45
pubmed: 15496913
Genome Res. 2018 Jul;28(7):1029-1038
pubmed: 29884752
Nat Methods. 2017 Apr;14(4):407-410
pubmed: 28218898
Genome Res. 2009 Sep;19(9):1655-64
pubmed: 19648217
Nucleic Acids Res. 1999 Jan 1;27(1):260-2
pubmed: 9847196
Bioinformatics. 2018 Sep 15;34(18):3094-3100
pubmed: 29750242
Nucleic Acids Res. 1983 Apr 11;11(7):2017-33
pubmed: 6300789
Nature. 2016 Jul 28;535(7613):575-9
pubmed: 27437574
Nat Biotechnol. 2019 Feb;37(2):127-128
pubmed: 30670797
Genomics. 1992 Jul;13(3):585-93
pubmed: 1639387
Genome Res. 1998 Aug;8(8):758-62
pubmed: 9724321
Genomics. 1990 Aug;7(4):607-13
pubmed: 1974881
Bioinformatics. 2016 Jul 1;32(13):1921-1924
pubmed: 27153570
Chromosome Res. 2011 May;19(4):457-70
pubmed: 21484447

Auteurs

Karen H Miga (KH)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA. khmiga@ucsc.edu.

Sergey Koren (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Arang Rhie (A)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Mitchell R Vollger (MR)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Ariel Gershman (A)

Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Andrey Bzikadze (A)

Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, San Diego, CA, USA.

Shelise Brooks (S)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.

Edmund Howe (E)

Stowers Institute for Medical Research, Kansas City, MO, USA.

David Porubsky (D)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Glennis A Logsdon (GA)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Valerie A Schneider (VA)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.

Tamara Potapova (T)

Stowers Institute for Medical Research, Kansas City, MO, USA.

Jonathan Wood (J)

Wellcome Sanger Institute, Hinxton, UK.

William Chow (W)

Wellcome Sanger Institute, Hinxton, UK.

Joel Armstrong (J)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Jeanne Fredrickson (J)

Department of Pathology, University of Washington, Seattle, WA, USA.

Evgenia Pak (E)

Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Kristof Tigyi (K)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Milinn Kremitzki (M)

McDonnell Genome Institute at Washington University, St Louis, MO, USA.

Christopher Markovic (C)

McDonnell Genome Institute at Washington University, St Louis, MO, USA.

Valerie Maduro (V)

Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Amalia Dutra (A)

Cytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Gerard G Bouffard (GG)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.

Alexander M Chang (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Nancy F Hansen (NF)

Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Amy B Wilfert (AB)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Françoise Thibaud-Nissen (F)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.

Anthony D Schmitt (AD)

Arima Genomics, San Diego, CA, USA.

Jon-Matthew Belton (JM)

Arima Genomics, San Diego, CA, USA.

Siddarth Selvaraj (S)

Arima Genomics, San Diego, CA, USA.

Megan Y Dennis (MY)

Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.

Daniela C Soto (DC)

Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.

Ruta Sahasrabudhe (R)

DNA Technologies Core, Genome Center, University of California Davis, Davis, CA, USA.

Gulhan Kaya (G)

Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.

Josh Quick (J)

Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.

Nicholas J Loman (NJ)

Institute of Microbiology and Infection, University of Birmingham, Birmingham, UK.

Nadine Holmes (N)

DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.

Matthew Loose (M)

DeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.

Urvashi Surti (U)

Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.

Rosa Ana Risques (RA)

Department of Pathology, University of Washington, Seattle, WA, USA.

Tina A Graves Lindsay (TA)

McDonnell Genome Institute at Washington University, St Louis, MO, USA.

Robert Fulton (R)

McDonnell Genome Institute at Washington University, St Louis, MO, USA.

Ira Hall (I)

McDonnell Genome Institute at Washington University, St Louis, MO, USA.

Benedict Paten (B)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Kerstin Howe (K)

Wellcome Sanger Institute, Hinxton, UK.

Winston Timp (W)

Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Alice Young (A)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.

James C Mullikin (JC)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.

Pavel A Pevzner (PA)

Department of Computer Science and Engineering, University of California San Diego, San Diego, CA, USA.

Jennifer L Gerton (JL)

Stowers Institute for Medical Research, Kansas City, MO, USA.

Beth A Sullivan (BA)

Department of Molecular Genetics and Microbiology, Division of Human Genetics, Duke University Medical Center, Durham, NC, USA.

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.

Adam M Phillippy (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.

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