@article{Pielberg01092003,
author = {Pielberg, Gerli and Day, Andy E. and Plastow, Graham S. and Andersson, Leif}, 
title = {A Sensitive Method for Detecting Variation in Copy Numbers of Duplicated Genes},
volume = {13}, 
number = {9}, 
pages = {2171-2177}, 
year = {2003}, 
doi = {10.1101/gr.1188203}, 
abstract ={Gene duplications are common in the vertebrate genome, and duplicated loci  often show a variation in copy number that may have important phenotypic  effects. Here we describe a powerful method for quantification of duplicated  copies based on pyrosequencing. A reliable quantification was obtained by  amplification of the duplication break-point and a corresponding nonduplicated  sequence in a competitive PCR assay. A comparison with an independent method  for quantification based on the Invader technology revealed an excellent  correlation between the two methods. The pyrosequencing-based method was  evaluated by analyzing variation in copy number at the duplicated  KIT/Dominant white locus in pigs. We were able to distinguish  haplotypes at this locus by combining the duplication breakpoint test with a  diagnostic test for a functionally important splice mutation in the duplicated  gene. An extensive allelic variation, including the presence of a new allele  carrying a single KIT copy expected to encode a truncated KIT  receptor, was revealed when analyzing white pigs from commercial lines.}, 
URL = {http://genome.cshlp.org/content/13/9/2171.abstract}, 
eprint = {http://genome.cshlp.org/content/13/9/2171.full.pdf+html}, 
journal = {Genome Research} 
}