Article
Semi-automated assembly of high-quality diploid human reference genomes.
Nature - 1 Nov 2022
Jarvis Erich D, Formenti Giulio, Rhie Arang, Guarracino Andrea, Yang Chentao, Wood Jonathan, Tracey Alan, Thibaud-Nissen Francoise, Vollger Mitchell R, Porubsky David, Cheng Haoyu, Asri Mobin, Logsdon Glennis A, Carnevali Paolo, Chaisson Mark J P, Chin Chen-Shan, Cody Sarah, Collins Joanna, Ebert Peter, Escalona Merly, Fedrigo Olivier, Fulton Robert S, Fulton Lucinda L, Garg Shilpa, Gerton Jennifer L, Ghurye Jay, Granat Anastasiya, Green Richard E, Harvey William, Hasenfeld Patrick, Hastie Alex, Haukness Marina, Jaeger Erich B, Jain Miten, Kirsche Melanie, Kolmogorov Mikhail, Korbel Jan O, Koren Sergey, Korlach Jonas, Lee Joyce, Li Daofeng, Lindsay Tina, Lucas Julian, Luo Feng, Marschall Tobias, Mitchell Matthew W, McDaniel Jennifer, Nie Fan, Olsen Hugh E, Olson Nathan D, Pesout Trevor, Potapova Tamara, Puiu Daniela, Regier Allison, Ruan Jue, Salzberg Steven L, Sanders Ashley D, Schatz Michael C, Schmitt Anthony, Schneider Valerie A, Selvaraj Siddarth, Shafin Kishwar, Shumate Alaina, Stitziel Nathan O, Stober Catherine, Torrance James, Wagner Justin, Wang Jianxin, Wenger Aaron, Xiao Chuanle, Zimin Aleksey V, Zhang Guojie, Wang Ting, Li Heng, Garrison Erik, Haussler David, Hall Ira, Zook Justin M, Eichler Evan E, Phillippy Adam M, Paten Benedict, Howe Kerstin, Miga Karen H
Abstract excerpt
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society1,2. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals3,4. Recently, a high-quality telomere-to-telomere reference, CHM13, was generated with the latest long-read technologies, but it was...
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