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Updated: May 25, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Application of SNPstream for medical genetics research]
Li-juan Fei1, Lin-dan Ji, Li-na Zhang
1School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, P. R. China.
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.
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