Application of SNPstream for medical genetics research / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To introduce the principle, procedure, efficacy and application of SNPstream genotyping technology.</p><p><b>METHODS</b>Genotyping results of 152 SNPs were used to analyze the feasibility, call rate and accuracy of SNPstream technology.</p><p><b>RESULTS</b>For the 152 selected SNPs, 122 SNPs can be genotyped with SNPstream, for which 116 SNPs were successfully genotyped. Replication study showed that the repeatability of genotyping is 99%. When the allele cluster was clear, the accuracy can reach 100%. But when the allele cluster was obscure, the accuracy was only 93.8%.</p><p><b>CONCLUSION</b>SNPstream technology has the advantages of high accuracy, flexible throughput, and high cost performance, and may have a wide application for medical genetics research.</p>