TY - JOUR
AU - Marth, Gabor T
AB - CORRESPONDENCE This is more than twice the 9.1% overall MHR in the entire data set and nearly four times the 6.1% rate in amplicons without a primer- To the editor: Sanger-sequencing of diploid DNA from PCR ampli- SNP. Moreover, amplicons with primerSNPs account for half of all cons is the standard resequencing method for targeted mutation detec- missed heterozygotes. One plausible explanation is that the missed tion . Heterozygosity at polymorphisms within the PCR primer sites heterozygous individuals are also heterozygous at a primerSNP. If so, causes preferential amplification of the matched chromosome and the PCR primer would preferentially anneal to and amplify the chro- suppresses the signal from an alternate allele on the mismatched chro- mosome with the perfectly matched allele. In the resulting sequence mosome. Analysis of ten resequenced Encyclopedia of DNA Elements trace, the signal for the allele on the preferentially amplified chromo- 3,4 (ENCODE) regions shows that this phenomenon is responsible for some will dominate the alternate allele (Fig. 1a). Indeed, the MHR a large fraction of missed mutations, most of which can be recovered was 58.4% in individuals heterozygous at a primerSNP, nearly ten by doubling PCR amplicon coverage. times the 6.1% rate in 
TI - Primer-site SNPs mask mutations
JF - Nature Methods
DO - 10.1038/nmeth0307-192
DA - 2007-03-01
UR - https://www.deepdyve.com/lp/springer-journals/primer-site-snps-mask-mutations-M8rAECrtJ9
SP - 192
EP - 192
VL - 4
IS - 3
DP - DeepDyve
ER -