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