Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization

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Abstract
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. Curr. Protoc. Hum. Genet. 66:18.3.1‐18.3.14 © 2010 by John Wiley & Sons, Inc.