Exome sequencing: the sweet spot before whole genomes

被引：207

作者：

Teer, Jamie K. ^{[2
]}

Mullikin, James C. ^{[1
]}

机构：

[1] NHGRI, Genome Technol Branch, NIH, Bethesda, MD 20892 USA

[2] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

来源：

HUMAN MOLECULAR GENETICS | 2010年 / 19卷

基金：

美国国家卫生研究院;

关键词：

MULTIPLEX AMPLIFICATION; HYBRID SELECTION; DNA METHYLATION; HIGH-ALTITUDE; CAPTURE; ENRICHMENT; GENE; EXONS; HYBRIDIZATION; ADAPTATION;

D O I：

10.1093/hmg/ddq333

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：R145 / R151

页数：7

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