Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA
Open accessAbstract
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.”
From Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods (2017) · cites this paper as [15]
Human mitochondrial DNA contamination was measured using schmutzi.
“(iii) We measured human mitochondrial DNA contamination using schmutzi (40).”
From Ancient DNA sheds light on the genetic origins of early Iron Age Philistines (2019) · cites this paper as [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
- PMC
- PMC4601135
- 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
- gold
- doi.org
- Licence
- 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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