Cited by 515Forensic and Genetic ResearchGenomics and Phylogenetic StudiesGenetic diversity and population structure

Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA

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Renaud, Gabriel, Slon, Viviane, Duggan, Ana T., Kelso, Janet·2015·Genome Biology

Abstract

UNLABELLED: Ancient DNA is typically highly degraded with appreciable cytosine deamination, and contamination with present-day DNA often complicates the identification of endogenous molecules. Together, these factors impede accurate assembly of the endogenous ancient mitochondrial genome. We present schmutzi, an iterative approach to jointly estimate present-day human contamination in ancient human DNA datasets and reconstruct the endogenous mitochondrial genome. By using sequence deamination patterns and fragment length distributions, schmutzi accurately reconstructs the endogenous mitochondrial genome sequence even when contamination exceeds 50 %. Given sufficient coverage, schmutzi also produces reliable estimates of contamination across a range of contamination rates. AVAILABILITY: https://bioinf.eva.mpg.de/schmutzi/ license:GPLv3.

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  • The study provides the first reliable data set obtained from ancient Egyptians using high-throughput DNA sequencing methods and assessing authenticity via nucleotide misincorporation patterns and statistical contamination tests.

    “Here, we provide the first reliable data set obtained from ancient Egyptians using high-throughput DNA sequencing methods and assessing the authenticity of the retrieved ancient DNA via characteristic nucleotide misincorporation patterns1314 and statistical contamination tests15 to ensure the ancient origin of our obtained data.”
  • Human mitochondrial DNA contamination was measured using schmutzi.

    “(iii) We measured human mitochondrial DNA contamination using schmutzi (40).”

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Authors
Renaud, G., Slon, V., Duggan, A. T., & Kelso, J.
Affiliations
  • Max Planck Institute for Evolutionary Anthropology (DE)
  • McMaster University (CA)
Corresponding author
Renaud, Gabriel
Venue
Genome Biology
Published
2015-10-12
Volume
16
Issue
1
Pages
224-224
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W2099595226
Cited by
509
References
32
Citations by year
2026: 63 · 2025: 78 · 2024: 57 · 2023: 60 · 2022: 40 · 2021: 60 · 2020: 60 · 2019: 34 · 2018: 28 · 2017: 19 · 2016: 10
FWCI
12.98
Type
journal article
Language
en
Open access
Locations
  • Genome biology (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion, cc-by)
  • Max Planck Digital Library (submittedVersion, other-oa)
Funders
Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (PGSD2-438066-2013)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
ancient DNA, contamination estimation, cytosine deamination, endogenous DNA, fragment size distribution
MeSH terms
Animals, Base Sequence, DNA, Mitochondrial, Humans, Software, Consensus Sequence, Sequence Analysis, DNA, Genome, Mitochondrial, DNA Contamination, Neanderthals

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