Publikation: Towards complete and error-free genome assemblies of all vertebrate species
Dateien
Datum
Autor:innen
Herausgeber:innen
ISSN der Zeitschrift
Electronic ISSN
ISBN
Bibliografische Daten
Verlag
Schriftenreihe
Auflagebezeichnung
URI (zitierfähiger Link)
DOI (zitierfähiger Link)
Internationale Patentnummer
Link zur Lizenz
Angaben zur Forschungsförderung
Projekt
Open Access-Veröffentlichung
Sammlungen
Core Facility der Universität Konstanz
Titel in einer weiteren Sprache
Publikationstyp
Publikationsstatus
Erschienen in
Zusammenfassung
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 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 Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries.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.
Zusammenfassung in einer weiteren Sprache
Fachgebiet (DDC)
Schlagwörter
Konferenz
Rezension
Zitieren
ISO 690
RHIE, Arang, Axel MEYER, Andreas F. KAUTT, Paolo FRANCHINI, Robert KRAUS, Kerstin HOWE, Eugene W. MYERS, Richard DURBIN, Adam M. PHILLIPPY, Erich D. JARVIS, 2021. Towards complete and error-free genome assemblies of all vertebrate species. In: Nature. Springer Nature. 2021, 592, pp. 737-746. ISSN 0028-0836. eISSN 1476-4687. Available under: doi: 10.1038/s41586-021-03451-0BibTex
@article{Rhie2021Towar-53602, year={2021}, doi={10.1038/s41586-021-03451-0}, title={Towards complete and error-free genome assemblies of all vertebrate species}, volume={592}, issn={0028-0836}, journal={Nature}, pages={737--746}, author={Rhie, Arang and Meyer, Axel and Kautt, Andreas F. and Franchini, Paolo and Kraus, Robert and Howe, Kerstin and Myers, Eugene W. and Durbin, Richard and Phillippy, Adam M. and Jarvis, Erich D.} }
RDF
<rdf:RDF xmlns:dcterms="http://purl.org/dc/terms/" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:bibo="http://purl.org/ontology/bibo/" xmlns:dspace="http://digital-repositories.org/ontologies/dspace/0.1.0#" xmlns:foaf="http://xmlns.com/foaf/0.1/" xmlns:void="http://rdfs.org/ns/void#" xmlns:xsd="http://www.w3.org/2001/XMLSchema#" > <rdf:Description rdf:about="https://kops.uni-konstanz.de/server/rdf/resource/123456789/53602"> <dc:contributor>Myers, Eugene W.</dc:contributor> <dc:contributor>Franchini, Paolo</dc:contributor> <dcterms:issued>2021</dcterms:issued> <dc:contributor>Rhie, Arang</dc:contributor> <dc:creator>Rhie, Arang</dc:creator> <dc:contributor>Durbin, Richard</dc:contributor> <dspace:isPartOfCollection rdf:resource="https://kops.uni-konstanz.de/server/rdf/resource/123456789/28"/> <dc:creator>Howe, Kerstin</dc:creator> <dc:contributor>Howe, Kerstin</dc:contributor> <dc:contributor>Jarvis, Erich D.</dc:contributor> <dcterms:rights rdf:resource="http://creativecommons.org/licenses/by/4.0/"/> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2021-05-05T14:11:19Z</dc:date> <dc:rights>Attribution 4.0 International</dc:rights> <dcterms:available rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2021-05-05T14:11:19Z</dcterms:available> <dc:creator>Durbin, Richard</dc:creator> <dc:creator>Phillippy, Adam M.</dc:creator> <dspace:hasBitstream rdf:resource="https://kops.uni-konstanz.de/bitstream/123456789/53602/1/Rhie_2-1nimnmd8oujjx8.pdf"/> <dc:contributor>Phillippy, Adam M.</dc:contributor> <dcterms:isPartOf rdf:resource="https://kops.uni-konstanz.de/server/rdf/resource/123456789/28"/> <dc:creator>Meyer, Axel</dc:creator> <bibo:uri rdf:resource="https://kops.uni-konstanz.de/handle/123456789/53602"/> <dc:creator>Jarvis, Erich D.</dc:creator> <dcterms:abstract xml:lang="eng">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 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.</dcterms:abstract> <dc:creator>Franchini, Paolo</dc:creator> <dc:contributor>Kautt, Andreas F.</dc:contributor> <dc:contributor>Meyer, Axel</dc:contributor> <dc:creator>Kautt, Andreas F.</dc:creator> <dc:creator>Kraus, Robert</dc:creator> <dc:creator>Myers, Eugene W.</dc:creator> <dcterms:hasPart rdf:resource="https://kops.uni-konstanz.de/bitstream/123456789/53602/1/Rhie_2-1nimnmd8oujjx8.pdf"/> <dc:language>eng</dc:language> <dc:contributor>Kraus, Robert</dc:contributor> <foaf:homepage rdf:resource="http://localhost:8080/"/> <void:sparqlEndpoint rdf:resource="http://localhost/fuseki/dspace/sparql"/> <dcterms:title>Towards complete and error-free genome assemblies of all vertebrate species</dcterms:title> </rdf:Description> </rdf:RDF>