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Nat Biotechnol. 2003 Jun;21(6):673-8. Epub 2003 May 5.

Multiplexed genotyping with sequence-tagged molecular inversion probes.

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  • 1Stanford Genome Technology Center, Stanford University, 855 California Avenue, Palo Alto, California 94304, USA.

Abstract

We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.

PMID:
12730666
[PubMed - indexed for MEDLINE]
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