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Targeted enrichment of specific regions in the human genome by array hybridization.


Igartua CCatherine , Turner EH Emily H , Ng SB Sarah B , Hodges E Emily , Hannon GJ Gregory J , Bhattacharjee A Arindam , Rieder MJ Mark J , Nickerson DA Deborah A , Shendure J Jay . Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]. 2010 7 ; Chapter 18(). Unit 18.3


While whole-genome resequencing remains expensive, genomic partitioning provides an affordable means of targeting sequence efforts towards regions of high interest. There are several competitive methods for targeted capture; these include molecular inversion probes, microdroplet-segregated multiplex PCR, and on-array or in-solution capture-by-hybridization. Enrichment of the human exome by array hybridization has been successfully applied to pinpoint the causative allele of Mendelian disorders. This protocol focuses on the application of Agilent 1 M arrays for capture-by-hybridization and sequencing on the Illumina platform, although the library preparation method may be adaptable to other vendors’ array platforms and sequencing technologies.