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Genome-Wide Copy Number Alteration Detection in Preimplantation Genetic Diagnosis

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Next Generation Sequencing

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1712))

Abstract

Shallow whole genome sequencing has recently been introduced for genome-wide detection of chromosomal copy number alterations (CNAs) in preimplantation genetic diagnosis (PGD), using only 4–7 trophectoderm cells biopsied from day-5 embryos. This chapter describes the complete method, starting from whole genome amplification (WGA) on isolated blastomere(s), up to data analysis for CNA detection. The process is described generically and can also be used to perform CNA analysis on a limited number of cells (down to a single cell) in other applications. This unique description also includes some tips and tricks to increase the chance of success.

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References

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Author information

Authors and Affiliations

  1. Laboratory of Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, 9000, Ghent, Belgium

    Lieselot Deleye, Dieter De Coninck, Dieter Deforce & Filip Van Nieuwerburgh

Authors
  1. Lieselot Deleye
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  2. Dieter De Coninck
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  3. Dieter Deforce
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  4. Filip Van Nieuwerburgh
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Corresponding author

Correspondence to Filip Van Nieuwerburgh .

Editor information

Editors and Affiliations

  1. Next Generation Sequencing and Microarray Core Facility, The Scripps Research Institute, La Jolla, California, USA

    Steven R. Head

  2. Next Generation Sequencing and Microarray Core Facility, The Scripps Research Institute, La Jolla, California, USA

    Phillip Ordoukhanian

  3. Department of Molecular Medicine, The Scripps Research Institute Center for Organ and Cell Transplantation, La Jolla, California, USA

    Daniel R. Salomon

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Deleye, L., De Coninck, D., Deforce, D., Van Nieuwerburgh, F. (2018). Genome-Wide Copy Number Alteration Detection in Preimplantation Genetic Diagnosis. In: Head, S., Ordoukhanian, P., Salomon, D. (eds) Next Generation Sequencing. Methods in Molecular Biology, vol 1712. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7514-3_3

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  • DOI: https://doi.org/10.1007/978-1-4939-7514-3_3

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7512-9

  • Online ISBN: 978-1-4939-7514-3

  • eBook Packages: Springer Protocols

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