Genome-wide in situ exon capture for selective resequencing

Hodges, E., Xuan, Z. Y., Balija, V., Kramer, M. R., Molla, M. N., Smith, S. W., Middle, C. M., Rodesch, M. J., Albert, T. J., Hannon, G. J., McCombie, W. R. (2007) Genome-wide in situ exon capture for selective resequencing. Nature Genetics, 39 (12). pp. 1522-7. ISSN 1061-4036

URL: http://www.ncbi.nlm.nih.gov/pubmed/17982454
DOI: 10.1038/ng.2007.42

Abstract

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.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > analysis and processing > Sequence Data Processing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons
bioinformatics > genomics and proteomics > personal genomes
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes

bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons > protein coding exon
CSHL Authors:
Communities: CSHL labs > Hannon lab
CSHL labs > McCombie lab
Depositing User: CSHL Librarian
Date Deposited: 15 Nov 2011 16:04
Last Modified: 11 Apr 2013 19:38
Related URLs:
URI: http://repository.cshl.edu/id/eprint/23035

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