Multiplexed genotyping with sequence-tagged molecular inversion probes

Nat Biotechnol. 2003 Jun;21(6):673-8. doi: 10.1038/nbt821. Epub 2003 May 5.


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.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Validation Study

MeSH terms

  • Cells, Cultured
  • Chromosomes, Human, Pair 6 / genetics
  • DNA Mutational Analysis / methods
  • Expressed Sequence Tags
  • Gene Expression Profiling / methods*
  • Genotype
  • Humans
  • Molecular Probe Techniques*
  • Oligonucleotide Array Sequence Analysis / methods*
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Single Nucleotide*
  • Quality Control
  • Sequence Analysis, DNA / methods