Cited by 411Forensic and Genetic ResearchPaleopathology and ancient diseasesGenetic diversity and population structure

Ancient DNA analysis

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Orlando, Ludovic, Allaby, Robin, Skoglund, Pontus, Der Sarkissian, Clio, Stockhammer, Philipp W., Ávila-Arcos, María C., Fu, Qiaomei, Krause, Johannes +3 more·2021·Nature Reviews Methods Primers

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Crossref · 10.1038/s43586-020-00011-0

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  • Reference bias and spurious mappings pose a significant challenge in ancient DNA analysis, particularly as cutting-edge wet lab methods generate datasets that push the boundaries of alignment tools.

    “However, reference bias and spurious mappings pose a significant challenge, particularly as cutting-edge wet lab methods generate datasets that push the boundaries of alignment tools.”

    From Unravelling reference bias in ancient DNA datasets (2024) · cites this paper as Orlando et al. 2021

    The Results section says mapping to a single reference genome can introduce substantial reference bias, and its read-processing discussion says mapper performance varies with sample-preparation methods. It discusses mapping specificity, but does not specifically identify spurious mappings as a significant challenge or say that cutting-edge wet-lab methods generate datasets that push alignment tools to their limits. No page numbers are available in our copy. (LLM, conf=0.84)

    Experimental — accuracy not yet measured
  • Without employing proper data quality control checks, downstream analyses and the reliability of results obtained from ancient genomes can become significantly biassed.

    “Without employing proper data quality control checks, downstream analyses and the reliability of the results obtained from ancient genomes can become significantly biassed (Günther and Nettelblad 2019, Orlando et al. 2021).”

    From Unravelling reference bias in ancient DNA datasets (2024) · cites this paper as Orlando et al. 2021

  • aDNA sequence data poses analytical challenges due to the degraded nature of aDNA and the presence of environmental contaminants.

    “but also poses analytical challenges due to the degraded nature of aDNA and the presence of environmental contaminants (Orlando et al. 2021).”

    From Unravelling reference bias in ancient DNA datasets (2024) · cites this paper as Orlando et al. 2021

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  • Unravelling reference bias in ancient DNA datasets

    Dolenz, S., van der Valk, T., Jin, C., Oppenheimer, J., Sharif, M. B., Orlando, L., Shapiro, B., Dalén, L., & Heintzman, P. D. (2024) · Bioinformatics · doi:10.1093/bioinformatics/btae436 · Cited by 33 · see citing works

    “These phenomena can occur when mapping to either a conspecific or closely related genome in which the alignment tool favours alleles found within the reference over alternative alleles (G € unther and Nettelblad 2019, Orlando et al. 2021).”
    BackgroundSelf-citation

Authors
Orlando, L., Allaby, R., Skoglund, P., Der Sarkissian, C., Stockhammer, P. W., Ávila-Arcos, M. C., Fu, Q., Krause, J., Willerslev, E., Stone, A. C., & Warinner, C.
Affiliations
  • Université Toulouse III - Paul Sabatier (FR)
  • University of Warwick (GB)
  • The Francis Crick Institute (GB)
  • Max Planck Institute of Geoanthropology (DE)
  • Chinese Academy of Sciences (CN)
  • University of Copenhagen (DK)
  • Arizona State University (US)
  • Harvard University (US)
Corresponding author
Orlando, Ludovic
Venue
Nature Reviews Methods Primers
Published
2021-02-11
Volume
1
Issue
1
Pages
60 pages
ISSN
2662-8449 (ISSN-L)
OpenAlex
W3129075539
Cited by
411
References
379
Citations by year
2026: 82 · 2025: 82 · 2024: 110 · 2023: 76 · 2022: 41 · 2021: 20
FWCI
9.53
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Methods Primers (publishedVersion)
  • HAL (submittedVersion, other-oa)
  • University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion, cc-by)
  • Warwick Research Archive Portal (University of Warwick) (submittedVersion)
Funders
  • Vallee Foundation (FC001595, 852558, 217223/Z/19/Z)
  • Wellcome Trust (852558, FC001595, 217223/Z/19/Z)
  • Francis Crick Institute (852558, 217223/Z/19/Z, FC001595)
  • Cancer Research UK (217223/Z/19/Z, FC001595, 852558)
  • European Commission (ERC-2017, ERC-2018-StG, 217223, HORIZON2020, 681605)
  • Deutsche Forschungsgemeinschaft (EXC 2051—, 390713860)
  • Agence Nationale de la Recherche (2017-)
  • Max-Planck-Gesellschaft
  • Medical Research Council (217223/Z/19/Z, FC001595, 852558)
  • H2020 European Research Council (678901)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Social Sciences › Arts and Humanities › Archeology › Paleopathology and ancient diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
ancient DNA, ancient genomes, DNA extraction, DNA damage, DNA authentication, next-generation sequencing, prehistoric humans, human evolution, ethical considerations, stakeholder engagement, descendant communities, archaeological samples

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