Planned maintenance
A system upgrade is planned for 10/12-2024, at 12:00-13:00. During this time DiVA will be unavailable.
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Identifying the causes and consequences of assembly gaps using a multiplatform genome assembly of a bird‐of‐paradise
Department of Ecology and Genetics—Evolutionary Biology Science for Life Laboratories Uppsala University Uppsala Sweden;Department of Organismal Biology—Systematic Biology Science for Life Laboratories Uppsala University Uppsala Sweden.ORCID iD: 0000-0001-5119-1837
Department of Bioinformatics and Genetics Swedish Museum of Natural History Stockholm Sweden;Museum für Naturkunde Leibniz Institut für Evolutions‐ und Biodiversitätsforschung Berlin Germany.ORCID iD: 0000-0002-6304-9827
Department of Neurosciences and Developmental Biology University of Vienna Vienna Austria.ORCID iD: 0000-0002-3714-8047
Department of Population Ecology Institute of Ecology and Evolution Friedrich‐Schiller‐University Jena Jena Germany.
Show others and affiliations
2020 (English)In: Molecular Ecology Resources, ISSN 1755-098X, E-ISSN 1755-0998, Vol. 21, no 1, p. 263-286Article in journal (Refereed) Published
Abstract [en]

Genome assemblies are currently being produced at an impressive rate by consortia and individual laboratories. The low costs and increasing efficiency of sequencing technologies now enable assembling genomes at unprecedented quality and contiguity. However, the difficulty in assembling repeat-rich and GC-rich regions (genomic “dark matter”) limits insights into the evolution of genome structure and regulatory networks. Here, we compare the efficiency of currently available sequencing technologies (short/linked/long reads and proximity ligation maps) and combinations thereof in assembling genomic dark matter. By adopting different de novo assembly strategies, we compare individual draft assemblies to a curated multiplatform reference assembly and identify the genomic features that cause gaps within each assembly. We show that a multiplatform assembly implementing long-read, linked-read and proximity sequencing technologies performs best at recovering transposable elements, multicopy MHC genes, GC-rich microchromosomes and the repeat-rich W chromosome. Telomere-to-telomere assemblies are not a reality yet for most organisms, but by leveraging technology choice it is now possible to minimize genome assembly gaps for downstream analysis. We provide a roadmap to tailor sequencing projects for optimized completeness of both the coding and noncoding parts of nonmodel genomes.

Place, publisher, year, edition, pages
2020. Vol. 21, no 1, p. 263-286
Keywords [en]
Genetics, Ecology, Evolution, Behavior and Systematics, Biotechnology
National Category
Genetics
Research subject
Ecosystems and species history
Identifiers
URN: urn:nbn:se:nrm:diva-4545DOI: 10.1111/1755-0998.13252OAI: oai:DiVA.org:nrm-4545DiVA, id: diva2:1619276
Funder
Swedish Research Council, 2019-03900Available from: 2021-12-13 Created: 2021-12-13 Last updated: 2021-12-14Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full text

Search in DiVA

By author/editor
Peona, ValentinaBlom, Mozes P. K.Xu, LuohaoZhou, QiIrestedt, MartinSuh, Alexander
By organisation
Department of Bioinformatics and Genetics
In the same journal
Molecular Ecology Resources
Genetics

Search outside of DiVA

GoogleGoogle Scholar

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 35 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf