Scripps VIVO scripps research logo

  • Index
  • Log in
  • Home
  • People
  • Organizations
  • Research
  • Events
Search form
As of April 1st VIVO Scientific Profiles will no longer updated for faculty, and the link to VIVO will be removed from the library website. Faculty profile pages will continue to be updated via Interfolio. VIVO will continue being used behind the scenes to update graduate student profiles. Please contact helplib@scripps.edu if you have questions.
How to download citations from VIVO | Alternative profile options

Polymorphism ratio sequencing: a new approach for single nucleotide polymorphism discovery and genotyping

Academic Article
uri icon
  • Overview
  • Identity
  • Additional Document Info
  • View All
scroll to property group menus

Overview

authors

  • Blazej, R. G.
  • Paegel, Brian
  • Mathies, R. A.

publication date

  • February 2003

journal

  • Genome Research  Journal

abstract

  • Polymorphism ratio sequencing (PRS) combines the advantages of high-throughput DNA sequencing with new labeling and pooling schemes to produce a powerful assay for sensitive single nucleotide polymorphism (SNP) discovery, rapid genotyping, and accurate, multiplexed allele frequency determination. In the PRS method, dideoxy-terminator extension ladders generated from a sample and reference template are labeled with different energy-transfer fluorescent dyes and coinjected into a separation capillary for comparison of relative signal intensities. We demonstrate the PRS method by screening two human mitochondrial genomes for sequence variations using a microfabricated capillary array electrophoresis device. A titration of multiplexed DNA samples places the limit of minor allele frequency detection at 5%. PRS is a sensitive and robust polymorphism detection method for the analysis of individual or multiplexed samples that is compatible with any four-color fluorescence DNA sequencer.

subject areas

  • Codon
  • DNA, Mitochondrial
  • Genes, rRNA
  • Genetic Variation
  • Genome
  • Genotype
  • Humans
  • Mitochondria
  • Mitochondrial Proteins
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • RNA
  • RNA, Transfer
  • Sequence Analysis, DNA
scroll to property group menus

Identity

PubMed Central ID

  • PMC420372

International Standard Serial Number (ISSN)

  • 1088-9051

Digital Object Identifier (DOI)

  • 10.1101/gr.396203

PubMed ID

  • 12566407
scroll to property group menus

Additional Document Info

start page

  • 287

end page

  • 293

volume

  • 13

issue

  • 2

©2022 The Scripps Research Institute | Terms of Use | Powered by VIVO

  • About
  • Contact Us
  • Support