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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
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
Descripción
Sumario: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.

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