title: Targeted enrichment of specific regions in the human genome by array hybridization.
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.
authors.affiliation: University of Washington, Seattle, Washington, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Igartua
authors.forename: Emily H
authors.initials: EH
authors.lastname: Turner
authors.forename: Sarah B
authors.initials: SB
authors.lastname: Ng
authors.forename: Emily
authors.initials: E
authors.lastname: Hodges
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Hannon
authors.forename: Arindam
authors.initials: A
authors.lastname: Bhattacharjee
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Rieder
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Nickerson
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
mesh_terms: D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000235:genetics* / Q000379:methods*