Technical Report abstract
Nature Genetics 39, 1522 - 1527 (2007)
Published online: 4 November 2007 | doi:10.1038/ng.2007.42
Genome-wide in situ exon capture for selective resequencing
Emily Hodges1,4, Zhenyu Xuan1,2,4, Vivekanand Balija2, Melissa Kramer2, Michael N Molla3, Steven W Smith3, Christina M Middle3, Matthew J Rodesch3, Thomas J Albert3, Gregory J Hannon1 & W Richard McCombie2
Increasingly powerful sequencing technologies are ushering in an era of personal genome sequences and raising the possibility of using such information to guide medical decisions. Genome resequencing also promises to accelerate the identification of disease-associated mutations. Roughly 98% of the human genome is composed of repeats and intergenic or non–protein-coding sequences. Thus, it is crucial to focus resequencing on high-value genomic regions. Protein-coding exons represent one such type of high-value target. We have developed a method of using flexible, high-density microarrays to capture any desired fraction of the human genome, in this case corresponding to more than 200,000 protein-coding exons. Depending on the precise protocol, up to 55–85% of the captured fragments are associated with targeted regions and up to 98% of intended exons can be recovered. This methodology provides an adaptable route toward rapid and efficient resequencing of any sizeable, non-repeat portion of the human genome.
- Howard Hughes Medical Institute, Watson School of Biological Sciences, Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA.
- Watson School of Biological Sciences, Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, New York 11724, USA.
- NimbleGen Systems, Inc., 1 Science Court, Madison, Wisconsin 53711, USA.
- These authors contributed equally to this work.
Correspondence to: Gregory J Hannon1 e-mail: hannon@cshl.edu
Correspondence to: W Richard McCombie2 e-mail: McCombie@cshl.edu
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