A genome-wide scalable SNP genotyping assay using microarray technology

被引：459

作者：

Gunderson, KL

Steemers, FJ

Lee, G

Mendoza, LG

Chee, MS

机构：

[1] Illumina Inc, San Diego, CA 92121 USA

[2] Ambion Inc, Austin, TX 78744 USA

[3] Prognosys Biosci Inc, San Diego, CA 92121 USA

来源：

NATURE GENETICS | 2005年 / 37卷 / 05期

关键词：

D O I：

10.1038/ng1547

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Oligonucleotide probe arrays have enabled massively parallel analysis of gene expression levels from a single cDNA sample. Application of microarray technology to analyzing genomic DNA has been stymied by the sequence complexity of the entire human genome. A robust, single base - resolution direct genomic assay would extend the reach of microarray technology. We developed an array-based whole-genome genotyping assay that does not require PCR and enables effectively unlimited multiplexing. The assay achieves a high signal-to-noise ratio by combining specific hybridization of picomolar concentrations of whole genome - amplified DNA to arrayed probes with allele-specific primer extension and signal amplification. As proof of principle, we genotyped several hundred previously characterized SNPs. The conversion rate, call rate and accuracy were comparable to those of high-performance PCR-based genotyping assays.

引用

页码：549 / 554

页数：6

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