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Assembly of Ancient Mitochondrial Genomes Without a Closely Related Reference Sequence

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Ancient DNA

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1963))

Abstract

Recent methodological advances have transformed the field of ancient DNA (aDNA). Basic bioinformatics skills are becoming essential requirements to process and analyze the sheer amounts of data generated by current aDNA studies and in biomedical research in general. This chapter is intended as a practical guide to the assembly of ancient mitochondrial genomes, directly from genomic DNA-derived next-generation sequencing (NGS) data, specifically in the absence of closely related reference genomes. In a hands-on tutorial suitable for readers with little to no prior bioinformatics experience, we reconstruct the mitochondrial genome of a woolly mammoth deposited ~45,000 years ago. We introduce key software tools and outline general strategies for mitogenome assembly, including the critical quality assessment of assembly results without a reference genome.

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Author information

Authors and Affiliations

  1. Institute of Biology, University of Graz, Universitätsplatz 2, 8010, Graz, Austria

    Christoph Hahn

Authors
  1. Christoph Hahn
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Editor information

Editors and Affiliations

  1. Department of Ecology and Evolutionary Biology, University of California Santa Cruz, Santa Cruz, CA, USA

    Beth Shapiro

  2. Institute for Biochemistry and Biology, University of Potsdam, Potsdam, Germany

    Axel Barlow

  3. Tromsø University Museum, UiT—The Arctic University of Norway, Tromsø, Norway

    Peter D. Heintzman

  4. Institute for Biochemistry and Biology, University of Potsdam, Potsdam, Germany

    Michael Hofreiter

  5. Institute for Biochemistry and Biology, University of Potsdam, Potsdam, Germany

    Johanna L. A. Paijmans

  6. Laboratório Nacional de Computação Científica, Petrópolis, Rio de Janeiro, Brazil

    André E. R. Soares

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Hahn, C. (2019). Assembly of Ancient Mitochondrial Genomes Without a Closely Related Reference Sequence. In: Shapiro, B., Barlow, A., Heintzman, P., Hofreiter, M., Paijmans, J., Soares, A. (eds) Ancient DNA. Methods in Molecular Biology, vol 1963. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-9176-1_18

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  • DOI: https://doi.org/10.1007/978-1-4939-9176-1_18

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-9175-4

  • Online ISBN: 978-1-4939-9176-1

  • eBook Packages: Springer Protocols

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