UNIT 18.3 Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization

  1. Catherine Igartua1,
  2. Emily H. Turner1,
  3. Sarah B. Ng1,
  4. Emily Hodges2,3,
  5. Gregory J. Hannon2,3,
  6. Arindam Bhattacharjee4,
  7. Mark J. Rieder1,
  8. Deborah A. Nickerson1,
  9. Jay Shendure1

Published Online: 1 JUL 2010

DOI: 10.1002/0471142905.hg1803s66

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Igartua, C., Turner, E. H., Ng, S. B., Hodges, E., Hannon, G. J., Bhattacharjee, A., Rieder, M. J., Nickerson, D. A. and Shendure, J. 2010. Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization. Current Protocols in Human Genetics. 66:18.3:18.3.1–18.3.14.

Author Information

  1. 1

    University of Washington, Seattle, Washington

  2. 2

    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York

  3. 3

    Howard Hughes Medical Institute, Chevy Chase, Maryland

  4. 4

    Agilent Technologies, Santa Clara, California

Publication History

  1. Published Online: 1 JUL 2010
  2. Published Print: JUL 2010


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.


  • resequencing;
  • exome;
  • hybridization;
  • targeted enrichment