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Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell Robert Vollger, Nicolas Altemose, Lev I. Uralsky, Ariel Gershman and 90 more
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.
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Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L. I., Gershman, A., Aganezov, S. S., Hoyt, S. J., Diekhans, M., Logsdon, G. A., Alonge, M., Antonarakis, S. E., Borchers, M., Bouffard, G. G., Brooks, S. Y., … Phillippy, A. M. (2022). The complete sequence of a human genome. Science, 376(6588), 44–53. https://doi.org/10.1126/science.abj6987
Nurk, Sergey, et al. "The complete sequence of a human genome." Science, vol. 376, no. 6588, 2022, pp. 44–53, https://doi.org/10.1126/science.abj6987.
Nurk, Sergey, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell Robert Vollger, et al. "The complete sequence of a human genome." Science 376, no. 6588 (2022): 44–53. https://doi.org/10.1126/science.abj6987.
Nurk S., Koren S., Rhie A. [и др.] The complete sequence of a human genome // Science. — 2022. — Vol. 376, № 6588. — P. 44–53. — URL: https://doi.org/10.1126/science.abj6987
@article{nurk2022complete,
title = {{The complete sequence of a human genome}},
author = {Sergey Nurk and Sergey Koren and Arang Rhie and Mikko Rautiainen and Andrey V. Bzikadze and Alla Mikheenko and Mitchell Robert Vollger and Nicolas Altemose and Lev I. Uralsky and Ariel Gershman and Sergey S. Aganezov and Savannah J. Hoyt and Mark Diekhans and Glennis A. Logsdon and Michael Alonge and Stylianos E. Antonarakis and Matthew Borchers and Gerard G. Bouffard and Shelise Y. Brooks and Gina Viviana Caldas and Nae-Chyun Chen and Haoyu Cheng and Chen-Shan Chin and William Chow and Leonardo Gomes de Lima and Philip C. Dishuck and Richard Michael Durbin and Tatiana Dvorkina and Ian T. Fiddes and Giulio Formenti and Robert S. Fulton and Arkarachai Fungtammasan and Erik P. Garrison and Patrick G. S. Grady and Tina A. Graves-Lindsay and Ira M. Hall and Nancy Fisher Hansen and Gabrielle A. Hartley and Marina Haukness and Kerstin Howe and Michael W. Hunkapiller and Chirag Jain and Miten Jain and Erich David Jarvis and Peter Kerpedjiev and Melanie Kirsche and Mikhail Kolmogorov and Jonas Korlach and Milinn Kremitzki and Heng Li and Valerie V. Braden Maduro and Tobias Marschall and Ann M. Mc Cartney and Jennifer McDaniel and Danny E. Miller and James C. Mullikin and Eugene Wimberly Myers and Nathan D. Olson and Benedict Paten and Paul S. Peluso and Pavel A. Pevzner and David Porubskỳ and Tamara Potapova and Evgeny Ivanovich Rogaev and Jeffrey Rosenfeld and Steven L. Salzberg and Valérie Schneider and Fritz Joachim Sedlazeck and Kishwar Shafin and Colin J. Shew and Alaina Shumate and Ying Sims and Arian F. A. Smit and Daniela C. Soto and Ivan Sović and Jessica M. Storer and Aaron Streets and Beth A. Sullivan and Françoise Thibaud‐Nissen and James Torrance and Justin Wagner and Brian P. Walenz and Aaron M. Wenger and Jonathan M. D. Wood and Chunlin Xiao and Stephanie M. Yan and Alice Young and Samantha Zarate and Urvashi Surti and Rajiv C. McCoy and Megan Y. Dennis and Ivan A. Alexandrov and Jennifer L. Gerton and Rachel J. Waugh O'Neill and Winston Timp and Justin M. Zook and Michael C. Schatz and Evan E. Eichler and Karen H. Miga and Adam M. Phillippy},
journal = {Science},
year = {2022},
volume = {376},
number = {6588},
pages = {44--53},
doi = {10.1126/science.abj6987},
url = {https://doi.org/10.1126/science.abj6987}
}TY - JOUR AU - Nurk, Sergey AU - Koren, Sergey AU - Rhie, Arang AU - Rautiainen, Mikko AU - Bzikadze, Andrey V. AU - Mikheenko, Alla AU - Vollger, Mitchell Robert AU - Altemose, Nicolas AU - Uralsky, Lev I. AU - Gershman, Ariel AU - Aganezov, Sergey S. 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 Viviana AU - Chen, Nae-Chyun AU - Cheng, Haoyu AU - Chin, Chen-Shan AU - Chow, William AU - Lima, Leonardo Gomes de AU - Dishuck, Philip C. AU - Durbin, Richard Michael AU - Dvorkina, Tatiana AU - Fiddes, Ian T. AU - Formenti, Giulio AU - Fulton, Robert S. AU - Fungtammasan, Arkarachai AU - Garrison, Erik P. AU - Grady, Patrick G. S. AU - Graves-Lindsay, Tina A. AU - Hall, Ira M. AU - Hansen, Nancy Fisher AU - Hartley, Gabrielle A. AU - Haukness, Marina AU - Howe, Kerstin AU - Hunkapiller, Michael W. AU - Jain, Chirag AU - Jain, Miten AU - Jarvis, Erich David AU - Kerpedjiev, Peter AU - Kirsche, Melanie AU - Kolmogorov, Mikhail AU - Korlach, Jonas AU - Kremitzki, Milinn AU - Li, Heng AU - Maduro, Valerie V. Braden AU - Marschall, Tobias AU - Cartney, Ann M. Mc AU - McDaniel, Jennifer AU - Miller, Danny E. AU - Mullikin, James C. AU - Myers, Eugene Wimberly AU - Olson, Nathan D. AU - Paten, Benedict AU - Peluso, Paul S. AU - Pevzner, Pavel A. AU - Porubskỳ, David AU - Potapova, Tamara AU - Rogaev, Evgeny Ivanovich AU - Rosenfeld, Jeffrey AU - Salzberg, Steven L. AU - Schneider, Valérie AU - Sedlazeck, Fritz Joachim AU - Shafin, Kishwar AU - Shew, Colin J. AU - Shumate, Alaina AU - Sims, Ying AU - Smit, Arian F. A. AU - Soto, Daniela C. AU - Sović, Ivan AU - Storer, Jessica M. AU - Streets, Aaron AU - Sullivan, Beth A. AU - Thibaud‐Nissen, Françoise AU - Torrance, James AU - Wagner, Justin AU - Walenz, Brian P. AU - Wenger, Aaron M. AU - Wood, Jonathan M. D. AU - Xiao, Chunlin AU - Yan, Stephanie M. AU - Young, Alice AU - Zarate, Samantha AU - Surti, Urvashi AU - McCoy, Rajiv C. AU - Dennis, Megan Y. AU - Alexandrov, Ivan A. AU - Gerton, Jennifer L. AU - O'Neill, Rachel J. Waugh AU - Timp, Winston AU - Zook, Justin M. AU - Schatz, Michael C. AU - Eichler, Evan E. AU - Miga, Karen H. AU - Phillippy, Adam M. TI - The complete sequence of a human genome JO - Science VL - 376 IS - 6588 SP - 44 EP - 53 PY - 2022 DA - 2022/03/31 DO - 10.1126/science.abj6987 UR - https://doi.org/10.1126/science.abj6987 ER -
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