Molecular inversion probe technology is a newly developed technique for capturing targeted sequences by designed specific probes,and the captured sequences is enriched for subsequent chip hybridization or sequencing detection. By this technology,researchers can study important genome regions in a large of samples and avoid the high cost and difficulties from genome-wide analysis. In addition,molecular inversion probe technology makes up for the shortages of molecular capture methods such as hybrid capture and PCR capture techniques,and will provide forceful technical support for the research of important DNA fragments of plants,animals and pathogens. Molecular inversion probe technology is currently being used in SNP genotyping,exon sequencing,copy number variation,loss of heterozygosity,somatic mutation,DNA methylation and alternative splicing,etc. Molecular inversion probe technology has been applied more and more broadly owing to its characteristics,such as strong specificity,fine repeatability,simple operation,low cost,low requirement for DNA integrity,and being adaptable to the analysis of formalin-paraffin-embedded samples. However,molecular inversion probe technology still needs to be improved in terms of probe design and data analysis software development. To promote a comprehensive understanding of this technology,here we review the principle,development process,technical characteristics,and the applications in disease research,as well as discuss its values and existing issues while applying molecular inversion probe technology.
