Application of SNPstream for medical genetics research.
- VernacularTitle:SNPstream基因分型技术在医学遗传学研究中的应用
- Author:
Li-juan FEI
1
;
Lin-dan JI
;
Li-na ZHANG
;
Shuai HUA
;
Jie-qiong JIN
;
Jin XU
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Genetics, Medical; methods; Genotyping Techniques; methods; Humans; Polymorphism, Single Nucleotide; genetics; Reproducibility of Results
- From: Chinese Journal of Medical Genetics 2012;29(1):9-12
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo introduce the principle, procedure, efficacy and application of SNPstream genotyping technology.
METHODSGenotyping results of 152 SNPs were used to analyze the feasibility, call rate and accuracy of SNPstream technology.
RESULTSFor 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%.
CONCLUSIONSNPstream technology has the advantages of high accuracy, flexible throughput, and high cost performance, and may have a wide application for medical genetics research.
