Abstract
Despite the influx of high throughput sequencing techniques, there is still a niche for low-medium throughput genotyping technologies for small-scale screening and validation purposes. 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 utilized to identify tri-allelic, indel, and short repeat polymorphisms, as well as determining allele percentages for methylation or pooled sample assessment. This range of applications makes it well-suited to the research laboratory as a one-stop system.
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King, C.R., Marsh, S. (2013). Pyrosequencing of Clinically Relevant Polymorphisms. In: Innocenti, F., van Schaik, R. (eds) Pharmacogenomics. Methods in Molecular Biology, vol 1015. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-435-7_6
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DOI: https://doi.org/10.1007/978-1-62703-435-7_6
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