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The complete sequence of a human genome*
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 pai...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186530/ https://www.ncbi.nlm.nih.gov/pubmed/35357919 http://dx.doi.org/10.1126/science.abj6987 |
| _version_ | 1784724956054028288 |
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| author | Nurk, Sergey Koren, Sergey Rhie, Arang Rautiainen, Mikko Bzikadze, Andrey V. Mikheenko, Alla Vollger, Mitchell R. Altemose, Nicolas Uralsky, Lev Gershman, Ariel Aganezov, Sergey Hoyt, Savannah J. Diekhans, Mark Logsdon, Glennis A. Alonge, Michael Antonarakis, Stylianos E. Borchers, Matthew Bouffard, Gerard G. Brooks, Shelise Y. Caldas, Gina V. Chen, Nae-Chyun Cheng, Haoyu Chin, Chen-Shan Chow, William de Lima, Leonardo G. Dishuck, Philip C. Durbin, Richard Dvorkina, Tatiana Fiddes, Ian T. Formenti, Giulio Fulton, Robert S. Fungtammasan, Arkarachai Garrison, Erik Grady, Patrick G.S. Graves-Lindsay, Tina A. Hall, Ira M. Hansen, Nancy F. Hartley, Gabrielle A. Haukness, Marina Howe, Kerstin Hunkapiller, Michael W. Jain, Chirag Jain, Miten Jarvis, Erich D. Kerpedjiev, Peter Kirsche, Melanie Kolmogorov, Mikhail Korlach, Jonas Kremitzki, Milinn Li, Heng Maduro, Valerie V. Marschall, Tobias McCartney, Ann M. McDaniel, Jennifer Miller, Danny E. Mullikin, James C. Myers, Eugene W. Olson, Nathan D. Paten, Benedict Peluso, Paul Pevzner, Pavel A. Porubsky, David Potapova, Tamara Rogaev, Evgeny I. Rosenfeld, Jeffrey A. Salzberg, Steven L. Schneider, Valerie A. Sedlazeck, Fritz J. Shafin, Kishwar Shew, Colin J. Shumate, Alaina Sims, Ying Smit, Arian F. A. Soto, Daniela C. Sović, Ivan Storer, Jessica M. Streets, Aaron Sullivan, Beth A. Thibaud-Nissen, Françoise Torrance, James Wagner, Justin Walenz, Brian P. Wenger, Aaron Wood, Jonathan M. D. Xiao, Chunlin Yan, Stephanie M. Young, Alice C. Zarate, Samantha Surti, Urvashi McCoy, Rajiv C. Dennis, Megan Y. Alexandrov, Ivan A. Gerton, Jennifer L. O’Neill, Rachel J. Timp, Winston Zook, Justin M. Schatz, Michael C. Eichler, Evan E. Miga, Karen H. Phillippy, Adam M. |
| author_facet | Nurk, Sergey Koren, Sergey Rhie, Arang Rautiainen, Mikko Bzikadze, Andrey V. Mikheenko, Alla Vollger, Mitchell R. Altemose, Nicolas Uralsky, Lev Gershman, Ariel Aganezov, Sergey Hoyt, Savannah J. Diekhans, Mark Logsdon, Glennis A. Alonge, Michael Antonarakis, Stylianos E. Borchers, Matthew Bouffard, Gerard G. Brooks, Shelise Y. Caldas, Gina V. Chen, Nae-Chyun Cheng, Haoyu Chin, Chen-Shan Chow, William de Lima, Leonardo G. Dishuck, Philip C. Durbin, Richard Dvorkina, Tatiana Fiddes, Ian T. Formenti, Giulio Fulton, Robert S. Fungtammasan, Arkarachai Garrison, Erik Grady, Patrick G.S. Graves-Lindsay, Tina A. Hall, Ira M. Hansen, Nancy F. Hartley, Gabrielle A. Haukness, Marina Howe, Kerstin Hunkapiller, Michael W. Jain, Chirag Jain, Miten Jarvis, Erich D. Kerpedjiev, Peter Kirsche, Melanie Kolmogorov, Mikhail Korlach, Jonas Kremitzki, Milinn Li, Heng Maduro, Valerie V. Marschall, Tobias McCartney, Ann M. McDaniel, Jennifer Miller, Danny E. Mullikin, James C. Myers, Eugene W. Olson, Nathan D. Paten, Benedict Peluso, Paul Pevzner, Pavel A. Porubsky, David Potapova, Tamara Rogaev, Evgeny I. Rosenfeld, Jeffrey A. Salzberg, Steven L. Schneider, Valerie A. Sedlazeck, Fritz J. Shafin, Kishwar Shew, Colin J. Shumate, Alaina Sims, Ying Smit, Arian F. A. Soto, Daniela C. Sović, Ivan Storer, Jessica M. Streets, Aaron Sullivan, Beth A. Thibaud-Nissen, Françoise Torrance, James Wagner, Justin Walenz, Brian P. Wenger, Aaron Wood, Jonathan M. D. Xiao, Chunlin Yan, Stephanie M. Young, Alice C. Zarate, Samantha Surti, Urvashi McCoy, Rajiv C. Dennis, Megan Y. Alexandrov, Ivan A. Gerton, Jennifer L. O’Neill, Rachel J. Timp, Winston Zook, Justin M. Schatz, Michael C. Eichler, Evan E. Miga, Karen H. Phillippy, Adam M. |
| author_sort | Nurk, Sergey |
| collection | PubMed |
| description | 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 (bp) 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 bp of sequence containing 1,956 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. |
| format | Online Article Text |
| id | pubmed-9186530 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-91865302022-06-10 The complete sequence of a human genome* Nurk, Sergey Koren, Sergey Rhie, Arang Rautiainen, Mikko Bzikadze, Andrey V. Mikheenko, Alla Vollger, Mitchell R. Altemose, Nicolas Uralsky, Lev Gershman, Ariel Aganezov, Sergey Hoyt, Savannah J. Diekhans, Mark Logsdon, Glennis A. Alonge, Michael Antonarakis, Stylianos E. Borchers, Matthew Bouffard, Gerard G. Brooks, Shelise Y. Caldas, Gina V. Chen, Nae-Chyun Cheng, Haoyu Chin, Chen-Shan Chow, William de Lima, Leonardo G. Dishuck, Philip C. Durbin, Richard Dvorkina, Tatiana Fiddes, Ian T. Formenti, Giulio Fulton, Robert S. Fungtammasan, Arkarachai Garrison, Erik Grady, Patrick G.S. Graves-Lindsay, Tina A. Hall, Ira M. Hansen, Nancy F. Hartley, Gabrielle A. Haukness, Marina Howe, Kerstin Hunkapiller, Michael W. Jain, Chirag Jain, Miten Jarvis, Erich D. Kerpedjiev, Peter Kirsche, Melanie Kolmogorov, Mikhail Korlach, Jonas Kremitzki, Milinn Li, Heng Maduro, Valerie V. Marschall, Tobias McCartney, Ann M. McDaniel, Jennifer Miller, Danny E. Mullikin, James C. Myers, Eugene W. Olson, Nathan D. Paten, Benedict Peluso, Paul Pevzner, Pavel A. Porubsky, David Potapova, Tamara Rogaev, Evgeny I. Rosenfeld, Jeffrey A. Salzberg, Steven L. Schneider, Valerie A. Sedlazeck, Fritz J. Shafin, Kishwar Shew, Colin J. Shumate, Alaina Sims, Ying Smit, Arian F. A. Soto, Daniela C. Sović, Ivan Storer, Jessica M. Streets, Aaron Sullivan, Beth A. Thibaud-Nissen, Françoise Torrance, James Wagner, Justin Walenz, Brian P. Wenger, Aaron Wood, Jonathan M. D. Xiao, Chunlin Yan, Stephanie M. Young, Alice C. Zarate, Samantha Surti, Urvashi McCoy, Rajiv C. Dennis, Megan Y. Alexandrov, Ivan A. Gerton, Jennifer L. O’Neill, Rachel J. Timp, Winston Zook, Justin M. Schatz, Michael C. Eichler, Evan E. Miga, Karen H. Phillippy, Adam M. Science Article 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 (bp) 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 bp of sequence containing 1,956 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. 2022-04 2022-03-31 /pmc/articles/PMC9186530/ /pubmed/35357919 http://dx.doi.org/10.1126/science.abj6987 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License, which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use. |
| spellingShingle | Article Nurk, Sergey Koren, Sergey Rhie, Arang Rautiainen, Mikko Bzikadze, Andrey V. Mikheenko, Alla Vollger, Mitchell R. Altemose, Nicolas Uralsky, Lev Gershman, Ariel Aganezov, Sergey Hoyt, Savannah J. Diekhans, Mark Logsdon, Glennis A. Alonge, Michael Antonarakis, Stylianos E. Borchers, Matthew Bouffard, Gerard G. Brooks, Shelise Y. Caldas, Gina V. Chen, Nae-Chyun Cheng, Haoyu Chin, Chen-Shan Chow, William de Lima, Leonardo G. Dishuck, Philip C. Durbin, Richard Dvorkina, Tatiana Fiddes, Ian T. Formenti, Giulio Fulton, Robert S. Fungtammasan, Arkarachai Garrison, Erik Grady, Patrick G.S. Graves-Lindsay, Tina A. Hall, Ira M. Hansen, Nancy F. Hartley, Gabrielle A. Haukness, Marina Howe, Kerstin Hunkapiller, Michael W. Jain, Chirag Jain, Miten Jarvis, Erich D. Kerpedjiev, Peter Kirsche, Melanie Kolmogorov, Mikhail Korlach, Jonas Kremitzki, Milinn Li, Heng Maduro, Valerie V. Marschall, Tobias McCartney, Ann M. McDaniel, Jennifer Miller, Danny E. Mullikin, James C. Myers, Eugene W. Olson, Nathan D. Paten, Benedict Peluso, Paul Pevzner, Pavel A. Porubsky, David Potapova, Tamara Rogaev, Evgeny I. Rosenfeld, Jeffrey A. Salzberg, Steven L. Schneider, Valerie A. Sedlazeck, Fritz J. Shafin, Kishwar Shew, Colin J. Shumate, Alaina Sims, Ying Smit, Arian F. A. Soto, Daniela C. Sović, Ivan Storer, Jessica M. Streets, Aaron Sullivan, Beth A. Thibaud-Nissen, Françoise Torrance, James Wagner, Justin Walenz, Brian P. Wenger, Aaron Wood, Jonathan M. D. Xiao, Chunlin Yan, Stephanie M. Young, Alice C. Zarate, Samantha Surti, Urvashi McCoy, Rajiv C. Dennis, Megan Y. Alexandrov, Ivan A. Gerton, Jennifer L. O’Neill, Rachel J. Timp, Winston Zook, Justin M. Schatz, Michael C. Eichler, Evan E. Miga, Karen H. Phillippy, Adam M. The complete sequence of a human genome* |
| title | The complete sequence of a human genome* |
| title_full | The complete sequence of a human genome* |
| title_fullStr | The complete sequence of a human genome* |
| title_full_unstemmed | The complete sequence of a human genome* |
| title_short | The complete sequence of a human genome* |
| title_sort | complete sequence of a human genome* |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186530/ https://www.ncbi.nlm.nih.gov/pubmed/35357919 http://dx.doi.org/10.1126/science.abj6987 |
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