Pyrosequencing of Clinically Relevant Polymorphisms View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2013

AUTHORS

Cristi R. King , Sharon Marsh

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. More... »

PAGES

97-114

References to SciGraph publications

  • 2008. Single Nucleotide Polymorphisms and DNA Methylation Analysis Using Pyrosequencing Methods in BIOMARKER METHODS IN DRUG DISCOVERY AND DEVELOPMENT
  • 2003-03-26. Pharmacogenetic Analysis of Clinically Relevant Genetic Polymorphisms in NOVEL ANTICANCER DRUG PROTOCOLS
  • 2005-12. CYP3A4 and CYP3A5genotyping by Pyrosequencing in BMC MEDICAL GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-1-62703-435-7_6

    DOI

    http://dx.doi.org/10.1007/978-1-62703-435-7_6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1016387802

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23824851


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