Yoo, Dongahn and Rhie, Arang and Hebbar, Prajna and Antonacci, Francesca and Logsdon, Glennis A. and Solar, Steven J. and Antipov, Dmitry and Pickett, Brandon D. and Safonova, Yana and Montinaro, Francesco and Luo, Yanting and Malukiewicz, Joanna and Storer, Jessica M. and Lin, Jiadong and Sequeira, Abigail N. and Mangan, Riley J. and Hickey, Glenn and Monfort Anez, Graciela and Balachandran, Parithi and Bankevich, Anton and Beck, Christine R. and Biddanda, Arjun and Borchers, Matthew and Bouffard, Gerard G. and Brannan, Emry and Brooks, Shelise Y. and Carbone, Lucia and Carrel, Laura and Chan, Agnes P. and Crawford, Juyun and Diekhans, Mark and Engelbrecht, Eric and Feschotte, Cedric and Formenti, Giulio and Garcia, Gage H. and de Gennaro, Luciana and Gilbert, David and Green, Richard E. and Guarracino, Andrea and Gupta, Ishaan and Haddad, Diana and Han, Junmin and Harris, Robert S. and Hartley, Gabrielle A. and Harvey, William T. and Hiller, Michael and Hoekzema, Kendra and Houck, Marlys L. and Jeong, Hyeonsoo and Kamali, Kaivan and Kellis, Manolis and Kille, Bryce and Lee, Chul and Lee, Youngho and Lees, William and Lewis, Alexandra P. and Li, Qiuhui and Loftus, Mark and Loh, Yong Hwee Eddie and Loucks, Hailey and Ma, Jian and Mao, Yafei and Martinez, Juan F. I. and Masterson, Patrick and McCoy, Rajiv C. and Mcgrath, Barbara and Mckinney, Sean and Meyer, Britta S. and Miga, Karen H. and Mohanty, Saswat K. and Munson, Katherine M. and Pal, Karol and Pennell, Matt and Pevzner, Pavel A. and Porubsky, David and Potapova, Tamara and Ringeling, Francisca R. and Rocha, Joana L. and Ryder, Oliver A. and Sacco, Samuel and Saha, Swati and Sasaki, Takayo and Schatz, Michael C. and Schork, Nicholas J. and Shanks, Cole and Smeds, Linnea and Son, Dongmin R. and Steiner, Cynthia and Sweeten, Alexander P. and Tassia, Michael G. and Thibaud-Nissen, Francoise and Torres-Gonzalez, Edmundo and Trivedi, Mihir and Wei, Wenjie and Wertz, Julie and Yang, Muyu and Zhang, Panpan and Zhang, Shilong and Zhang, Yang and Zhang, Zhenmiao and Zhao, Sarah A. and Zhu, Yixin and Jarvis, Erich D. and Gerton, Jennifer L. and Rivas-Gonzalez, Iker and Paten, Benedict and Szpiech, Zachary A. and Huber, Christian D. and Lenz, Tobias L. and Konkel, Miriam K. and Yi, Soojin V. and Canzar, Stefan and Watson, Corey T. and Sudmant, Peter H. and Molloy, Erin and Garrison, Erik and Lowe, Craig B. and Ventura, Mario and O'Neill, Rachel J. and Koren, Sergey and Makova, Kateryna D. and Phillippy, Adam M. and Eichler, Evan E. (2025) Complete sequencing of ape genomes. NATURE, 641 (8062). ISSN 0028-0836, 1476-4687
Full text not available from this repository. (Request a copy)Abstract
The most dynamic and repetitive regions of great ape genomes have traditionally been excluded from comparative studies(1-3). Consequently, our understanding of the evolution of our species is incomplete. Here we present haplotype-resolved reference genomes and comparative analyses of six ape species: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang. We achieve chromosome-level contiguity with substantial sequence accuracy (<1 error in 2.7 megabases) and completely sequence 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, to provide in-depth evolutionary insights. Comparative analyses enabled investigations of the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference genome. Such regions include newly minted gene families in lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes and subterminal heterochromatin. This resource serves as a comprehensive baseline for future evolutionary studies of humans and our closest living ape relatives.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SEGMENTAL DUPLICATIONS; EVOLUTIONARY HISTORY; PERICENTRIC-INVERSION; MOLECULAR CHARACTERIZATION; 15Q13.3 MICRODELETION; GENE FAMILY; CHIMPANZEE; DIVERSITY; IMPACT; HETEROCHROMATIN; |
| Subjects: | 000 Computer science, information & general works > 004 Computer science |
| Divisions: | Informatics and Data Science Informatics and Data Science > Department Computational Life Science > Algorithmische Bioinformatik (Prof. Dr. Stefan Canzar) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 23 Mar 2026 11:26 |
| Last Modified: | 23 Mar 2026 11:26 |
| URI: | https://pred.uni-regensburg.de/id/eprint/68104 |
Actions (login required)
 |
View Item |
