Multiplexed genotyping with sequence-tagged molecular inversion probes
Top Cited Papers
- 5 May 2003
- journal article
- research article
- Published by Springer Nature in Nature Biotechnology
- Vol. 21 (6) , 673-678
- https://doi.org/10.1038/nbt821
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.Keywords
This publication has 22 references indexed in Scilit:
- Pyrosequencing?: An accurate detection platform for single nucleotide polymorphismsHuman Mutation, 2002
- Making ends meet in genetic analysis using padlock probesHuman Mutation, 2002
- Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21Science, 2001
- Multiplex PCR: Optimization and Application in Diagnostic VirologyClinical Microbiology Reviews, 2000
- PCR-generated padlock probes detect single nucleotide variation in genomic DNANucleic Acids Research, 2000
- Quantitative phenotypic analysis of yeast deletion mutants using a highly parallel molecular bar–coding strategyNature Genetics, 1996
- Expression monitoring by hybridization to high-density oligonucleotide arraysNature Biotechnology, 1996
- Quantitative Monitoring of Gene Expression Patterns with a Complementary DNA MicroarrayScience, 1995
- Padlock Probes: Circularizing Oligonucleotides for Localized DNA DetectionScience, 1994
- A Ligase-Mediated Gene Detection TechniqueScience, 1988