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Nat Genet. 2005 May;37(5):549-54. Epub 2005 Apr 17.

A genome-wide scalable SNP genotyping assay using microarray technology.

Author information

1
Illumina, Inc., 9885 Towne Centre Dr., San Diego, California 92121, USA. kgunderson@illumina.com

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.

PMID:
15838508
DOI:
10.1038/ng1547
[Indexed for MEDLINE]

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