Bioinformatics · 2013 · 1.8K citations · 24 references
Life SciencesEvolutionary BiologyMolecular BiologyBioarchaeologyGenomicsPaleobiologyAncient DnaAncient Dna GenomicsDegraded Dna AnalysisDna SequencingAncient Dna EvolutionAncient Dna SequencingApproximate Bayesian InferenceBiological ContaminantsDamage Pattern AnalysisNext-generation Sequencing AuthenticationPopulation History ReconstructionPost-mortem Dna Damage Patterns
Ancient DNA from fossils, coprolites, sediments, and museum collections offers evolutionary insights but is hampered by contamination and post‑mortem damage that produces characteristic misincorporation patterns used for authentication. The mapDamage package was developed to detect these misincorporation patterns in next‑generation sequencing data.
Ancient DNA (aDNA) molecules in fossilized bones and teeth, coprolites, sediments, mummified specimens and museum collections represent fantastic sources of information for evolutionary biologists, revealing the agents of past epidemics and the dynamics of past populations. However, the analysis of aDNA generally faces two major issues. Firstly, sequences consist of a mixture of endogenous and various exogenous backgrounds, mostly microbial. Secondly, high nucleotide misincorporation rates can be observed as a result of severe post-mortem DNA damage. Such misincorporation patterns are instrumental to authenticate ancient sequences versus modern contaminants. We recently developed the user-friendly mapDamage package that identifies such patterns from next-generation sequencing (NGS) sequence datasets. The absence of formal statistical modeling of the DNA damage process, however, precluded rigorous quantitative comparisons across samples.
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