A genome-wide scalable SNP genotyping assay using microarray technology View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-05

AUTHORS

Kevin L Gunderson, Frank J Steemers, Grace Lee, Leo G Mendoza, Mark S Chee

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. More... »

PAGES

549-554

Journal

TITLE

Nature Genetics

ISSUE

5

VOLUME

37

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1547

    DOI

    http://dx.doi.org/10.1038/ng1547

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/15838508


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