Complete sequencing of ape genomes
Author:
Yoo DongAhnORCID, Rhie ArangORCID, Hebbar Prajna, Antonacci FrancescaORCID, Logsdon Glennis A.ORCID, Solar Steven J.ORCID, Antipov DmitryORCID, Pickett Brandon D.ORCID, Safonova YanaORCID, Montinaro Francesco, Luo Yanting, Malukiewicz Joanna, Storer Jessica M., Lin JiadongORCID, Sequeira Abigail N., Mangan Riley J.ORCID, Hickey Glenn, Anez Graciela Monfort, Balachandran ParithiORCID, Bankevich AntonORCID, Beck Christine R.ORCID, Biddanda Arjun, Borchers Matthew, Bouffard Gerard G., Brannan Emry, Brooks Shelise Y., Carbone LuciaORCID, Carrel Laura, Chan Agnes P.ORCID, Crawford Juyun, Diekhans Mark, Engelbrecht EricORCID, Feschotte Cedric, Formenti GiulioORCID, Garcia Gage H.ORCID, Gennaro Luciana deORCID, Gilbert DavidORCID, Green Richard E.ORCID, Guarracino Andrea, Gupta Ishaan, Haddad Diana, Han Junmin, Harris Robert S., Hartley Gabrielle A.ORCID, Harvey William T.ORCID, Hiller MichaelORCID, Hoekzema Kendra, Houck Marlys L., Jeong HyeonsooORCID, Kamali Kaivan, Kellis ManolisORCID, Kille BryceORCID, Lee ChulORCID, Lee Youngho, Lees WilliamORCID, Lewis Alexandra P., Li Qiuhui, Loftus MarkORCID, Loh Yong Hwee Eddie, Loucks HaileyORCID, Ma JianORCID, Mao YafeiORCID, Martinez Juan F. I., Masterson Patrick, McCoy Rajiv C.ORCID, McGrath Barbara, McKinney Sean, Meyer Britta S.ORCID, Miga Karen H., Mohanty Saswat K.ORCID, Munson Katherine M.ORCID, Pal KarolORCID, Pennell MattORCID, Pevzner Pavel A., Porubsky DavidORCID, Potapova Tamara, Ringeling Francisca R., Rocha Joana L.ORCID, Ryder Oliver A., Sacco Samuel, Saha SwatiORCID, Sasaki Takayo, Schatz Michael C.ORCID, Schork Nicholas J., Shanks Cole, Smeds LinnéaORCID, Son Dongmin R., Steiner Cynthia, Sweeten Alexander P.ORCID, Tassia Michael G., Thibaud-Nissen FrançoiseORCID, Torres-González Edmundo, Trivedi MihirORCID, Wei WenjieORCID, Wertz Julie, Yang Muyu, Zhang Panpan, Zhang ShilongORCID, Zhang Yang, Zhang ZhenmiaoORCID, Zhao Sarah A.ORCID, Zhu YixinORCID, Jarvis Erich D.ORCID, Gerton Jennifer L.ORCID, Rivas-González IkerORCID, Paten BenedictORCID, Szpiech Zachary A.ORCID, Huber Christian D.ORCID, Lenz Tobias L., Konkel Miriam K., Yi Soojin V., Canzar Stefan, Watson Corey T.ORCID, Sudmant Peter H.ORCID, Molloy ErinORCID, Garrison Erik, Lowe Craig B.ORCID, Ventura MarioORCID, O’Neill Rachel J.ORCID, Koren Sergey, Makova Kateryna D.ORCID, Phillippy Adam M.ORCID, Eichler Evan E.ORCID
Abstract
ABSTRACTWe present haplotype-resolved reference genomes and comparative analyses of six ape species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang. We achieve chromosome-level contiguity with unparalleled sequence accuracy (<1 error in 500,000 base pairs), completely sequencing 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, providing more in-depth evolutionary insights. Comparative analyses, including human, allow us to investigate the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference. This includes newly minted gene families within lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes, and subterminal heterochromatin. This resource should serve as a definitive baseline for all future evolutionary studies of humans and our closest living ape relatives.
Publisher
Cold Spring Harbor Laboratory
Cited by
2 articles.
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