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Multiplexed genotyping with sequence-tagged molecular inversion probes
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2003 (English)In: Nature Biotechnology, ISSN 1087-0156, E-ISSN 1546-1696, Vol. 21, no 6, 673-8 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2003. Vol. 21, no 6, 673-8 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-65382DOI: 10.1038/nbt821PubMedID: 12730666OAI: oai:DiVA.org:uu-65382DiVA: diva2:93293
Available from: 2005-09-20 Created: 2005-09-20 Last updated: 2017-11-30Bibliographically approved

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Nilsson, MatsLandegren, Ulf

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