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
GenErode: a bioinformatics pipeline to investigate genome erosion in endangered and extinct species
Stockholm University, Faculty of Science, Department of Biochemistry and Biophysics. Stockholm University, Science for Life Laboratory (SciLifeLab).ORCID iD: 0000-0002-8930-534x
Stockholm University, Faculty of Science, Department of Zoology. Centre for Palaeogenetics, Sweden; Swedish Museum of Natural History, Sweden.ORCID iD: 0000-0002-1324-7489
Show others and affiliations
Number of Authors: 122022 (English)In: BMC Bioinformatics, E-ISSN 1471-2105, Vol. 23, no 1, article id 228Article in journal (Refereed) Published
Abstract [en]

Background: Many wild species have suffered drastic population size declines over the past centuries, which have led to 'genomic erosion' processes characterized by reduced genetic diversity, increased inbreeding, and accumulation of harmful mutations. Yet, genomic erosion estimates of modern-day populations often lack concordance with dwindling population sizes and conservation status of threatened species. One way to directly quantify the genomic consequences of population declines is to compare genome-wide data from pre-decline museum samples and modern samples. However, doing so requires computational data processing and analysis tools specifically adapted to comparative analyses of degraded, ancient or historical, DNA data with modern DNA data as well as personnel trained to perform such analyses.

Results: Here, we present a highly flexible, scalable, and modular pipeline to compare patterns of genomic erosion using samples from disparate time periods. The GenErode pipeline uses state-of-the-art bioinformatics tools to simultaneously process whole-genome re-sequencing data from ancient/historical and modern samples, and to produce comparable estimates of several genomic erosion indices. No programming knowledge is required to run the pipeline and all bioinformatic steps are well-documented, making the pipeline accessible to users with different backgrounds. GenErode is written in Snakemake and Python3 and uses Conda and Singularity containers to achieve reproducibility on high-performance compute clusters. The source code is freely available on GitHub (https://github.com/NBISweden/GenErode).

Conclusions: GenErode is a user-friendly and reproducible pipeline that enables the standardization of genomic erosion indices from temporally sampled whole genome re-sequencing data.

Place, publisher, year, edition, pages
2022. Vol. 23, no 1, article id 228
Keywords [en]
Bioinformatics, Temporal genomic erosion, Conservation genomics, Whole genome re-sequencing data, Endangered species, Reproducibility, Snakemake, Ancient DNA
National Category
Biological Sciences
Identifiers
URN: urn:nbn:se:su:diva-207253DOI: 10.1186/s12859-022-04757-0ISI: 000810679500003PubMedID: 35698034Scopus ID: 2-s2.0-85131799948OAI: oai:DiVA.org:su-207253DiVA, id: diva2:1683785
Available from: 2022-07-18 Created: 2022-07-18 Last updated: 2024-01-17Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Authority records

Kutschera, Verena E.von Seth, JohannaDussex, NicolasLord, EdanaDehasque, MarianneEmami Khoonsari, PayamDalén, LoveDíez-del-Molino, David

Search in DiVA

By author/editor
Kutschera, Verena E.von Seth, JohannaDussex, NicolasLord, EdanaDehasque, MarianneEmami Khoonsari, PayamDalén, LoveDíez-del-Molino, David
By organisation
Department of Biochemistry and BiophysicsScience for Life Laboratory (SciLifeLab)Department of Zoology
In the same journal
BMC Bioinformatics
Biological Sciences

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 78 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