The complete sequence of a human genome

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The complete sequence of a human genome. / T2T consortium.

в: Science, Том 376, № 6588, 01.04.2022, стр. 44-53.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

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T2T consortium. / The complete sequence of a human genome. в: Science. 2022 ; Том 376, № 6588. стр. 44-53.

BibTeX

@article{5107c9db0b61467aa7bd469a45a9bb2a,

title = "The complete sequence of a human genome",

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.",

author = "{T2T consortium} and Sergey Nurk and Sergey Koren and Arang Rhie and Mikko Rautiainen and Bzikadze, {Andrey V.} and Alla Mikheenko and Vollger, {Mitchell R.} and Nicolas Altemose and Lev Uralsky and Ariel Gershman and Sergey Aganezov and Hoyt, {Savannah J.} and Mark Diekhans and Logsdon, {Glennis A.} and Michael Alonge and Antonarakis, {Stylianos E.} and Matthew Borchers and Bouffard, {Gerard G.} and Brooks, {Shelise Y.} and Caldas, {Gina V.} and Nae-Chyun Chen and Haoyu Cheng and Chen-Shan Chin and William Chow and {de Lima}, {Leonardo G.} and Dishuck, {Philip C.} and Richard Durbin and Tatiana Dvorkina and Fiddes, {Ian T.} and Giulio Formenti and Fulton, {Robert S.} and Arkarachai Fungtammasan and Erik Garrison and Grady, {Patrick G. S.} and Graves-Lindsay, {Tina A.} and Hall, {Ira M.} and Hansen, {Nancy F.} and Hartley, {Gabrielle A.} and Marina Haukness and Kerstin Howe and Hunkapiller, {Michael W.} and Chirag Jain and Miten Jain and Jarvis, {Erich D.} and Peter Kerpedjiev and Melanie Kirsche and Mikhail Kolmogorov and Jonas Korlach and Milinn Kremitzki and Heng Li",

note = "Publisher Copyright: Copyright {\textcopyright} 2022 The Authors.",

year = "2022",

month = apr,

day = "1",

doi = "10.1126/science.abj6987",

language = "English",

volume = "376",

pages = "44--53",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "6588",

}

RIS

TY - JOUR

T1 - The complete sequence of a human genome

AU - T2T consortium

AU - Nurk, Sergey

AU - Koren, Sergey

AU - Rhie, Arang

AU - Rautiainen, Mikko

AU - Bzikadze, Andrey V.

AU - Mikheenko, Alla

AU - Vollger, Mitchell R.

AU - Altemose, Nicolas

AU - Uralsky, Lev

AU - Gershman, Ariel

AU - Aganezov, Sergey

AU - Hoyt, Savannah J.

AU - Diekhans, Mark

AU - Logsdon, Glennis A.

AU - Alonge, Michael

AU - Antonarakis, Stylianos E.

AU - Borchers, Matthew

AU - Bouffard, Gerard G.

AU - Brooks, Shelise Y.

AU - Caldas, Gina V.

AU - Chen, Nae-Chyun

AU - Cheng, Haoyu

AU - Chin, Chen-Shan

AU - Chow, William

AU - de Lima, Leonardo G.

AU - Dishuck, Philip C.

AU - Durbin, Richard

AU - Dvorkina, Tatiana

AU - Fiddes, Ian T.

AU - Formenti, Giulio

AU - Fulton, Robert S.

AU - Fungtammasan, Arkarachai

AU - Garrison, Erik

AU - Grady, Patrick G. S.

AU - Graves-Lindsay, Tina A.

AU - Hall, Ira M.

AU - Hansen, Nancy F.

AU - Hartley, Gabrielle A.

AU - Haukness, Marina

AU - Howe, Kerstin

AU - Hunkapiller, Michael W.

AU - Jain, Chirag

AU - Jain, Miten

AU - Jarvis, Erich D.

AU - Kerpedjiev, Peter

AU - Kirsche, Melanie

AU - Kolmogorov, Mikhail

AU - Korlach, Jonas

AU - Kremitzki, Milinn

AU - Li, Heng

PY - 2022/4/1

Y1 - 2022/4/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85127401730&partnerID=8YFLogxK

U2 - 10.1126/science.abj6987

DO - 10.1126/science.abj6987

M3 - Article

C2 - 35357919

AN - SCOPUS:85127401730

VL - 376

SP - 44

EP - 53

JO - Science

JF - Science

SN - 0036-8075

IS - 6588

ER -

ID: 94684176

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