Towards complete and error-free genome assemblies of all vertebrate species
Pourquoi ce travail est-il dans la base ?
Une base qui oublie comment elle a trouvé un travail ne peut pas être vérifiée. Voici les voies qui ont admis celui-ci.
Résumé
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 1–4 . 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 Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries.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.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
La notice
- Revue
- Nature
- Thématique
- Genomics and Phylogenetic Studies
- Domaine
- Biochemistry, Genetics and Molecular Biology
- Établissements canadiens
- Royal Ontario Museum
- Organismes subventionnaires
- National Institute on Deafness and Other Communication DisordersAgencia Estatal de InvestigaciónNational Key Research and Development Program of ChinaAustralian Research CouncilWellcome TrustDanmarks GrundforskningsfondBiotechnology and Biological Sciences Research CouncilNational Institutes of HealthMax-Planck-GesellschaftGeneralitat de CatalunyaBundesministerium für Bildung und ForschungNational Institute of General Medical SciencesCentres de Recerca de CatalunyaMonash UniversityBiomedical Research CouncilHessisches Ministerium für Wissenschaft und KunstNational Research FoundationIrish Research CouncilEuropean CommissionEuropean Molecular Biology LaboratoryOxford Nanopore TechnologiesNational Human Genome Research InstituteVillum FondenMonash University MalaysiaNational Science Foundation
- Mots-clés
- VertebrateGenomeEvolutionary biologyBiologyComputational biologyGeneticsGene
- Résumé présent dans OpenAlex
- oui