Vis enkel innførsel

dc.contributor.authorRhie, Arang
dc.contributor.authorMcCarthy, Shane A.
dc.contributor.authorFedrigo, Olivier
dc.contributor.authorDamas, Joana
dc.contributor.authorFormenti, Giulio
dc.contributor.authorKoren, Sergey
dc.contributor.authorUiano-Silva, Marcela
dc.contributor.authorChow, William
dc.contributor.authorFungtammasan, Arkarachai
dc.contributor.authorKim, Juwan
dc.contributor.authorLee, Chul
dc.contributor.authorKo, Byung June
dc.contributor.authorChaisson, Mark
dc.contributor.authorGedman, Gregory L.
dc.contributor.authorCantin, Lindsey J.
dc.contributor.authorThibaud-Nissen, Francoise
dc.contributor.authorHaggerty, Leanne
dc.contributor.authorBista, Iliana
dc.contributor.authorSmith, Michelle
dc.contributor.authorHaase, Bettina
dc.contributor.authorMountcastle, Jacquelyn
dc.contributor.authorWinkler, Sylke
dc.contributor.authorPaez, Sadye
dc.contributor.authorHoward, Jason
dc.contributor.authorVernes, Sonja C.
dc.contributor.authorLama, Tanya M.
dc.contributor.authorGrutzner, Frank
dc.contributor.authorWarren, Wesley C.
dc.contributor.authorBalakrishnan, Christopher N.
dc.contributor.authorBurt, Dave
dc.contributor.authorGeorge, Julia M.
dc.contributor.authorBiegler, Matthew T.
dc.contributor.authorIorns, David
dc.contributor.authorDigby, Andrew
dc.contributor.authorEason, Daryl
dc.contributor.authorRobertson, Bruce
dc.contributor.authorEdwards, Taylor
dc.contributor.authorWilkinson, Mark
dc.contributor.authorTurner, George
dc.contributor.authorMeyer, Axel
dc.contributor.authorKautt, Andreas F.
dc.contributor.authorFranchini, Paolo
dc.contributor.authorDetrich, H. William III
dc.contributor.authorSvardal, Hannes
dc.contributor.authorWagner, Maximillian
dc.contributor.authorNaylor, Gavin J.P.
dc.contributor.authorPippel, Martin
dc.contributor.authorMalinsky, Milan
dc.contributor.authorGilbert, Marcus Thomas Pius
dc.contributor.authorJarvis, Erich D.
dc.date.accessioned2022-01-07T10:55:09Z
dc.date.available2022-01-07T10:55:09Z
dc.date.created2021-12-13T13:55:29Z
dc.date.issued2021
dc.identifier.citationNature. 2021, 592 737-746.en_US
dc.identifier.issn0028-0836
dc.identifier.urihttps://hdl.handle.net/11250/2836480
dc.description.abstractHigh-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 species1,2,3,4. To address this issue, the international Genome 10K (G10K) consortium5,6 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.en_US
dc.language.isoengen_US
dc.publisherNature Researchen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleTowards complete and error-free genome assemblies of all vertebrate speciesen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.description.versionpublishedVersionen_US
dc.source.pagenumber737-746en_US
dc.source.volume592en_US
dc.source.journalNatureen_US
dc.identifier.doi10.1038/s41586-021-03451-0
dc.identifier.cristin1967824
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Navngivelse 4.0 Internasjonal
Med mindre annet er angitt, så er denne innførselen lisensiert som Navngivelse 4.0 Internasjonal