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

Curr Protoc Hum Genet. 2010 Jul:Chapter 18:Unit 18.3. doi: 10.1002/0471142905.hg1803s66.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Genome, Human / genetics*
  • Humans
  • Nucleic Acid Hybridization / genetics*
  • Nucleic Acid Hybridization / methods*