TY  - JOUR
A1  - Blazej, Robert G.
A1  - Paegel, Brian M.
A1  - Mathies, Richard A.
T1  - Polymorphism Ratio Sequencing: A New Approach for Single Nucleotide Polymorphism Discovery and Genotyping
Y1  - 2003/02/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 287 
EP  - 293 
DO  - 10.1101/gr.396203 
VL  - 13 
IS  - 2 
UR  - http://genome.cshlp.org/content/13/2/287.abstract 
N2  - 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. 
ER  -