Ancient DNA analysis
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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 measuredWithout 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
- ORCID
- 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
- green
- hal.science
- Licence
- 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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