dc.contributor.author |
Rhie, Arang |
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McCarthy, Shane A. |
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Fedrigo, Olivier |
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Damas, Joana |
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Formenti, Giulio |
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Koren, Sergey |
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Uliano-Silva, Marcela |
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Fungtammasan, Arkarachai |
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Lee, Chul |
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Ko, Byung June |
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Chaisson, Mark |
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Gedman, Gregory L. |
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Cantin, Lindsey J. |
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Thibaud-Nissen, Francoise |
dc.contributor.author |
Haggerty, Leanne |
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Bista, Iliana |
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Smith, Michelle |
dc.contributor.author |
Haase, Bettina |
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Mountcastle, Jacquelyn |
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Winkler, Sylke |
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Paez, Sadye |
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Howard, Jason |
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Vernes, Sonja C. |
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Lama, Tanya M. |
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Marques-Bonet, Tomas |
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Warren, Wesley |
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Balakrishnan, Christopher N. |
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Burt, Dave |
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George, Julia M. |
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Biegler, Matthew T. |
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Iorns, David |
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Digby, Andrew |
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Eason, Daryl |
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Turner, George |
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Meyer, Axel |
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Kautt, Andreas F. |
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Franchini, Paolo |
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Detrich III, H. William |
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Svardal, Hannes |
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Wagner, Maximilian |
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Naylor, Gavin J. P. |
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Pippel, Martin |
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Malinsky, Milan |
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Mooney, Mark |
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Simbirsky, Maria |
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Hannigan, Brett T. |
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Pesout, Trevor |
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Misuraca, Ann |
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London, Sarah E. |
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Clayton, David F. |
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Friedrich, Samantha R. |
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Lovell, Peter V. |
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Al-Ajli, Farooq O. |
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Secomandi, Simona |
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Theofanopoulou, Constantina |
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Hiller, Michael |
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Zhou, Yang |
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Harris, Robert S. |
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Makova, Kateryna D. |
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Medvedev, Paul |
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Hoffman, Jinna |
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Masterson, Patrick |
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Clark, Karen |
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Martin, Fergal |
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Howe, Kevin |
dc.contributor.author |
Flicek, Paul |
dc.contributor.author |
Walenz, Brian P. |
dc.contributor.author |
Kwak, Woori |
dc.contributor.author |
Clawson, Hiram |
dc.contributor.author |
Diekhans, Mark |
dc.contributor.author |
Nassar, Luis |
dc.contributor.author |
Paten, Benedict |
dc.contributor.author |
Kraus, Robert H. S. |
dc.contributor.author |
Crawford, Andrew J. |
dc.contributor.author |
Gilbert, M. Thomas P. |
dc.contributor.author |
Zhang, Guojie |
dc.contributor.author |
Venkatesh, Byrappa |
dc.contributor.author |
Murphy, Robert W. |
dc.contributor.author |
Koepfli, Klaus-Peter |
dc.contributor.author |
Shapiro, Beth |
dc.contributor.author |
Johnson, Warren E. |
dc.contributor.author |
Di Palma, Federica |
dc.contributor.author |
Teeling, Emma C. |
dc.contributor.author |
Warnow, Tandy |
dc.contributor.author |
Graves, Jennifer Marshall |
dc.contributor.author |
Ryder, Oliver A. |
dc.contributor.author |
Haussler, David |
dc.contributor.author |
O'Brien, Stephen J. |
dc.contributor.author |
Korlach, Jonas |
dc.contributor.author |
Lewin, Harris A. |
dc.contributor.author |
Howe, Kerstin |
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Myers, Eugene W. |
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Durbin, Richard |
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Phillippy, Adam M. |
dc.contributor.author |
Jarvis, Erich D. |
dc.date |
2021 |
dc.identifier |
https://ddd.uab.cat/record/239763 |
dc.identifier |
urn:10.1038/s41586-021-03451-0 |
dc.identifier |
urn:oai:ddd.uab.cat:239763 |
dc.identifier |
urn:articleid:14764687v592p737 |
dc.identifier |
urn:pmid:33911273 |
dc.identifier |
urn:pmc-uid:8081667 |
dc.identifier |
urn:pmcid:PMC8081667 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:8081667 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
European Commission. Horizon 2020 750747 |
dc.relation |
European Commission. Horizon 2020 864203 |
dc.relation |
Ministerio de Economía, Industria y Competitividad BFU2017-86471-P |
dc.relation |
Ministerio de Ciencia e Innovación CEX2018-000792-M |
dc.relation |
Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-880 |
dc.relation |
European Commission 311000 |
dc.relation |
European Commission. Horizon 2020 681396 |
dc.relation |
Nature ; Vol. 592 (April 2021), p. 737-746 |
dc.rights |
open access |
dc.rights |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
dc.rights |
https://creativecommons.org/licenses/by/4.0/ |
dc.subject |
Evolutionary genetics |
dc.subject |
Genome assembly algorithms |
dc.subject |
Molecular evolution |
dc.subject |
Research data |
dc.title |
Towards complete and error-free genome assemblies of all vertebrate species |
dc.type |
Article |
dc.description.abstract |
Altres ajuts: Obra Social "La Caixa" and CERCA Programme/Generalitat de Catalunya |
dc.description.abstract |
High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species 1, 2, 3, 4. To address this issue, the international Genome 10K (G10K) consortium 5, 6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences. |