Pyrosequencing of Clinically Relevant Polymorphisms

  • Sharon Marsh
  • Cristi R. King
  • Adam A. Garsa
  • Howard L. McLeod
Part of the Methods in Molecular Biology™ book series (MIMB, volume 311)


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 tri-allelic, indel, and short-repeat polymorphisms, as well as determining allele percentages for methylation or pooled sample assessment. Assays details for Pyrosequencing of clinically relevant polymorphisms are described in this chapter.

Key Words

Pyrosequencing genotype polymorphism 


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Copyright information

© Humana Press Inc., Totowa, NJ 2005

Authors and Affiliations

  • Sharon Marsh
    • 1
  • Cristi R. King
    • 1
  • Adam A. Garsa
    • 1
  • Howard L. McLeod
    • 1
  1. 1.Division of Molecular OncologyWashington University School of MedicineSt. Louis

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