Multiplexed genotyping with sequence-tagged molecular inversion probes

作者: Paul Hardenbol , Johan Banér , Maneesh Jain , Mats Nilsson , Eugeni A Namsaraev

DOI: 10.1038/NBT821

关键词:

摘要: 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 analyzed universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis more than 1,000 probes tube can be done standard laboratory equipment. Genotypes generated with high call rate (95%) accuracy (>99%) as determined independent sequencing.

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