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Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies

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Pharmacogenomics and Personalized Medicine

Part of the book series: Methods in Pharmacology and Toxicology ((MIPT))

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Abstract

The release of millions of polymorphisms by recently completed, large- scale sequencing and genotyping efforts has provided us with unprecedented resources for carrying out genetic association analyses of drug response and disease predisposition. This chapter provides a guide to some general principles and available resources for the analysis of human genetic variation in genetic association studies. We first describe some principles of association studies and discuss the utility of different experimental designs in clinical practice. We then describe current repositories of human genetic variation and bioinformatics tools that have been developed for the efficient retrieval and evaluation of these genetic variants in the context of human genome annotation and disease. Finally, we survey pros and cons of current genotyping methodologies and available commercial products for genetic association studies.

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Acknowledgments

The authors would like to thank Dr. Reyna Favis for her technical insight.

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Authors and Affiliations

  1. Wellcome Trust Sanger Institute, Cambridge, UK

    Nicole Soranzo

  2. Department of Pharmacogenomics, Johnson and Johnson Pharmaceutical, Research and Development, L.L.C., Raritan, NJ

    Fu Dong-Jing & S. Li Qingqin

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  1. Nicole Soranzo
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  2. Fu Dong-Jing
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  3. S. Li Qingqin
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Editors and Affiliations

  1. Johnson and Johnson Pharmaceutical Research and Development, L.L.C., Raritan, NJ, USA

    Nadine Cohen

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Soranzo, N., Dong-Jing, F., Qingqin, S.L. (2008). Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies. In: Cohen, N. (eds) Pharmacogenomics and Personalized Medicine. Methods in Pharmacology and Toxicology. Humana Press. https://doi.org/10.1007/978-1-59745-439-1_8

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  • DOI: https://doi.org/10.1007/978-1-59745-439-1_8

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-934115-04-6

  • Online ISBN: 978-1-59745-439-1

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