Nurk, S and Koren, S and Rhie, A and Rautiainen, M and Bzikadze, AV and Mikheenko, A and Vollger, MR and Altemose, N and Uralsky, L and Gershman, A and Aganezov, S and Hoyt, SJ and Diekhans, M and Logsdon, GA and Alonge, M and Antonarakis, SE and Borchers, M and Bouffard, GG and Brooks, SY and Caldas, GV and Chen, N-C and Cheng, H and Chin, C-S and Chow, W and de Lima, LG and Dishuck, PC and Durbin, R and Dvorkina, T and Fiddes, IT and Formenti, G and Fulton, RS and Fungtammasan, A and Garrison, E and Grady, PGS and Graves-Lindsay, TA and Hall, IM and Hansen, NF and Hartley, GA and Haukness, M and Howe, K and Hunkapiller, MW and Jain, C and Jain, M and Jarvis, ED and Kerpedjiev, P and Kirsche, M and Kolmogorov, M and Korlach, J and Kremitzki, M and Li, H and Maduro, VV and Marschall, T and McCartney, AM and McDaniel, J and Miller, DE and Mullikin, JC and Myers, EW and Olson, ND and Paten, B and Peluso, P and Pevzner, PA and Porubsky, D and Potapova, T and Rogaev, EI and Rosenfeld, JA and Salzberg, SL and Schneider, VA and Sedlazeck, FJ and Shafin, K and Shew, CJ and Shumate, A and Sims, Y and Smit, AFA and Soto, DC and Sovi, I and Storer, JM and Streets, A and Sullivan, BA and Thibaud-Nissen, F and Torrance, J and Wagner, J and Walenz, BP and Wenger, A and Wood, JMD and Xiao, C and Yan, SM and Young, AC and Zarate, S and Surti, U and McCoy, RC and Dennis, MY and Alexandrov, IA and Gerton, JL and O'Neill, RJ and Timp, W and Zook, JM and Schatz, MC and Eichler, EE and Miga, KH and Phillippy, AM (2022) The complete sequence of a human genome. In: Science, 376 (6588). pp. 44-53.
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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. Copyright © 2022 The Authors.
| Item Type: | Journal Article |
|---|---|
| Publication: | Science |
| Publisher: | American Association for the Advancement of Science |
| Additional Information: | The copyright for this article belongs to authors. |
| Keywords: | acrocentric chromosome; article; centromere; gene sequence; human; human genome; prediction; segmental duplication; telomere |
| Department/Centre: | Division of Interdisciplinary Sciences > Computational and Data Sciences |
| Date Deposited: | 17 May 2022 09:46 |
| Last Modified: | 17 May 2022 09:46 |
| URI: | https://eprints.iisc.ac.in/id/eprint/71762 |
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