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

Igartua, C., Turner, E. H., Ng, S. B., Hodges, E., Hannon, G. J., Bhattacharjee, A., Rieder, M. J., Nickerson, D. A., Shendure, J. (2010) Targeted enrichment of specific regions in the human genome by array hybridization. Current Protocols in Human Genetics (SUPPL.). 18.3.1-18.3.14. ISSN 19348266 (ISSN)

DOI: 10.1002/0471142905.hg1803s66


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. Copyright © 2010 John Wiley & Sons, Inc.

Item Type: Paper
Uncontrolled Keywords: exome hybridization resequencing targeted enrichment genomic DNA DNA determination DNA fragmentation DNA hybridization DNA microarray gene sequence genetic analysis human genome methodology molecular genetics polymerase chain reaction priority journal review Genome, Human Humans Nucleic Acid Hybridization
Subjects: bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > Mapping and Rendering
bioinformatics > genomics and proteomics > Mapping and Rendering > Micro Array Data Rendering
CSHL Authors:
Communities: CSHL labs > Hannon lab
Depositing User: Matt Covey
Date: 2010
Date Deposited: 09 Jan 2013 16:13
Last Modified: 09 Jan 2013 16:13
PMCID: PMC2910258
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