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Hum Mol Genet. 2010 Oct 15;19(R2):R145-51. doi: 10.1093/hmg/ddq333. Epub 2010 Aug 12.

Exome sequencing: the sweet spot before whole genomes.

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1
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Bethesda, MD 20892, USA.

Abstract

The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows an unbiased investigation of the complete protein-coding regions in the genome. Researchers can use exome capture to focus on a critical part of the human genome, allowing larger numbers of samples than are currently practical with whole-genome sequencing. In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology.

PMID:
20705737
PMCID:
PMC2953745
DOI:
10.1093/hmg/ddq333
[Indexed for MEDLINE]
Free PMC Article
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