[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%.


CONCLUSIONS
SNPstream technology has the advantages of high accuracy, flexible throughput, and high cost performance, and may have a wide application for medical genetics research.
School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, P. R. China.
Li-juan
LJ
Fei
Lin-dan
LD
Ji
Li-na
LN
Zhang
Shuai
S
Hua
Jie-qiong
JQ
Jin
Jin
J
Xu
D000483:Alleles; D005826:Genetics, Medical / Q000379:methods*; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results