Summary
The data generated from the Human Genome Project has led to an explosion of technology for low-, medium-, and high-throughput genotyping methods. Pyrosequencing is a genotyping assay based on sequencing by synthesis. Short runs of sequence around each polymorphism are generated, allowing for internal controls for each sample. Pyrosequencing can also be used to identify triallelic, indel, and short-repeat polymorphisms, as well as determining allele percentages for DNA methylation or pooled sample assessment. Assays details for pyrosequencing of clinically relevant polymorphisms and DNA methylations are described in this chapter.
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Acknowledgments
The assistance of Derek Van Booven is greatly appreciated. This work is supported by the NIH Pharmacogenetics Research Network (U01 GM63340); http://pharmacogenetics.wustl.edu.
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© 2008 Humana Press, a part of Springer Science+Business Media, LLC
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Yu, J., Marsh, S. (2008). Single Nucleotide Polymorphisms and DNA Methylation Analysis Using Pyrosequencing Methods. In: Wang, F. (eds) Biomarker Methods in Drug Discovery and Development. Methods in Pharmacology and Toxicology™. Humana Press. https://doi.org/10.1007/978-1-59745-463-6_6
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DOI: https://doi.org/10.1007/978-1-59745-463-6_6
Publisher Name: Humana Press
Print ISBN: 978-1-934115-23-7
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