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Computer-Assisted Reading of DNA Sequences

  • Protocol
Clinical Bioinformatics

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 141))

Summary

DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and cheaper costs. Paradoxically, a greater demand for DNA sequencing has placed additional work on the laboratory because sequencing profiles must be checked visually despite the availability of informatics-based tools in interpreting DNA sequence traces. In this environment it is essential to have more sophisticated software that will allow the sites of known and unknown DNA variants to be quickly identified, as well as providing an objective assessment of quality for the DNA sequence generated. This chapter describes the Applied Biosystems SeqScape® software program (version 2.5) and how it has assisted in the interpretation of DNA sequencing in a DNA diagnostic laboratory.

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Abbreviations

kb:

kilobase

QV:

quality value

RDG:

reference data group

ROI:

regions of interest

IUB:

international union of biochemistry

References

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Author information

Authors and Affiliations

  1. Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia

    Huong Le & Marcus Hinchcliffe

  2. Department of Molecular and Clinical Genetics, University of Sydney Central Clinical School, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia

    Bing Yu & Ronald J. A. Trent

Authors
  1. Huong Le
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  2. Marcus Hinchcliffe
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  3. Bing Yu
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  4. Ronald J. A. Trent
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Editor information

Editors and Affiliations

  1. Department of Molecular and Clinical Genetics, University of Sydney Central Clinical School Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia

    Ronald J.A. Trent

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© 2008 Humana Press, a part of Springer Science+Business Media, LLC

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Cite this protocol

Le, H., Hinchcliffe, M., Yu, B., Trent, R.J.A. (2008). Computer-Assisted Reading of DNA Sequences. In: Trent, R.J. (eds) Clinical Bioinformatics. Methods in Molecular Medicine™, vol 141. Humana Press. https://doi.org/10.1007/978-1-60327-148-6_10

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  • DOI: https://doi.org/10.1007/978-1-60327-148-6_10

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-791-4

  • Online ISBN: 978-1-60327-148-6

  • eBook Packages: Springer Protocols

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