[Application of SNPstream for medical genetics research].

Objective: To introduce the principle, procedure, efficacy and application of SNPstream genotyping technology.

Methods: Genotyping results of 152 SNPs were used to analyze the feasibility, call rate and accuracy of SNPstream technology.

Results: 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%.

Conclusion: SNPstream technology has the advantages of high accuracy, flexible throughput, and high cost performance, and may have a wide application for medical genetics research.