Targeted Exon Sequencing by In‐Solution Hybrid Selection

Abstract

Abstract This unit describes a protocol for the targeted enrichment of exons from randomly sheared genomic DNA libraries using an in‐solution hybrid selection approach for sequencing on an Illumina Genome Analyzer II. The steps for designing and ordering a hybrid selection oligo pool are reviewed, as are critical steps for performing the preparation and hybrid selection of an Illumina paired‐end library. Critical parameters, performance metrics, and analysis workflow are discussed. Curr. Protoc. Hum. Genet . 66:18.4.1‐18.4.24 © 2010 by John Wiley & Sons, Inc.