Genome-wide in situ exon capture for selective resequencing

Emily Hodges, Zhenyu Xuan, Vivekanand Balija, Melissa Kramer, Michael N. Molla, Steven W. Smith, Christina M. Middle, Matthew J. Rodesch, Thomas J. Albert, Gregory J. Hannon, W. Richard McCombie

Research output: Contribution to journalArticlepeer-review

542 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1522-1527
Number of pages6
JournalNature genetics
Issue number12
StatePublished - Dec 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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