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Designs for Massively Parallel Sequencing Approaches to Identify Causal Mutations in Human Immune Disorders

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Immune Homeostasis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 979))

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Abstract

Massively parallel sequencing technologies provide new opportunities to discover causal variants and ­narrow down candidate genes responsible for human Mendelian disorders. Such information can in turn provide new insights into understanding the basic science behind, as well as improving diagnosis and treatment for, these disorders. In this chapter, we review experimental design and data analysis for sequencing studies of human immune disorders. We discuss optimal experimental designs for sample selection and sequencing approaches, as well as key aspects of data analysis such as filtering and prioritization of identified variants.

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Acknowledgments

We thank Bernice Lo and Helen Matthews for critically reading the manuscript. This work was supported by the Intramural Research Program of the National Institutes of Health and the National Institute of Allergy and Infectious Diseases.

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Authors and Affiliations

  1. Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

    Yu Zhang & Helen C. Su

Authors
  1. Yu Zhang
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  2. Helen C. Su
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Corresponding author

Correspondence to Helen C. Su .

Editor information

Editors and Affiliations

  1. of the Health Sciences, Department of Pharmacology, Uniformed Services University, Jones Bridge Road 4301, Bethesda, 20814, Maryland, USA

    Andrew L. Snow

  2. NIAID, Laboratory of Immunology, National Institutes of Health, Rockville Pike 9000, Bethesda, 20892, Maryland, USA

    Michael J. Lenardo

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Zhang, Y., Su, H.C. (2013). Designs for Massively Parallel Sequencing Approaches to Identify Causal Mutations in Human Immune Disorders. In: Snow, A., Lenardo, M. (eds) Immune Homeostasis. Methods in Molecular Biology, vol 979. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-290-2_14

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  • DOI: https://doi.org/10.1007/978-1-62703-290-2_14

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-289-6

  • Online ISBN: 978-1-62703-290-2

  • eBook Packages: Springer Protocols

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