@article{Blazej01022003, author = {Blazej, Robert G. and Paegel, Brian M. and Mathies, Richard A.}, title = {Polymorphism Ratio Sequencing: A New Approach for Single Nucleotide Polymorphism Discovery and Genotyping}, volume = {13}, number = {2}, pages = {287-293}, year = {2003}, doi = {10.1101/gr.396203}, 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.}, URL = {http://genome.cshlp.org/content/13/2/287.abstract}, eprint = {http://genome.cshlp.org/content/13/2/287.full.pdf+html}, journal = {Genome Research} }