Molecular inversion probe assay.

作者: Farnaz Absalan , Mostafa Ronaghi

DOI: 10.1007/978-1-59745-515-2_20

关键词: Computational biologyGenotypingGenetic variationAlleleInternational HapMap ProjectMolecular Inversion ProbeComputer science

摘要: We have described molecular inversion probe technologies for large-scale genetic analyses. This technique provides a comprehensive and powerful tool the analysis of variation enables affordable, studies that will help uncover basis complex disease explain individual in response to therapeutics. Major applications probes (MIP) include targeted genotyping from focused regions whole-genome studies, allele quantification genomic rearrangements. The MIP technology (used HapMap project) an efficient, scalable, affordable way score polymorphisms case/control populations studies. highest commercially available multiplexing levels assay conversion rates genotyping. more informative, genome-wide with either functional (direct detection) approach or indirect detection approach.

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