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- Title
A genome-wide scalable SNP genotyping assay using microarray technology.
- Authors
Gunderson, Kevin L; Steemers, Frank J; Lee, Grace; Mendoza, Leo G; Chee, Mark S
- Abstract
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.
- Publication
Nature genetics, 2005, Vol 37, Issue 5, p549
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1547