Methods for Genomic Partitioning

被引：89

作者：

Turner, Emily H. ^{[1
]}

Ng, Sarah B. ^{[1
]}

Nickerson, Deborah A. ^{[1
]}

Shendure, Jay ^{[1
]}

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2009年 / 10卷

基金：

美国国家卫生研究院;

关键词：

sequencing; genomic enrichment; multiplex analysis; exon capture; hybrid capture; resequencing; MULTIPLEX AMPLIFICATION; MUTATION DETECTION; CODING SEQUENCES; DIRECT SELECTION; PADLOCK PROBES; EXON CAPTURE; LARGE SETS; DNA; PCR; OLIGONUCLEOTIDES;

D O I：

10.1146/annurev-genom-082908-150112

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The emergence of massively parallel DNA sequencing platforms has made resequencing an affordable approach to study genetic variation. However, the cost of whole genome resequencing remains too high to apply to large numbers of human samples. Genomic partitioning methods allow enrichment for regions of interest at a scale that is snatched to the throughput of the new sequencing platforms. We review general categories of methods for genomic partitioning including multiplex PCR, capture-by-circularization, and capture-by-hybridization. Parameters that are relevant to the performance of any given method include multiplexity, specificity, uniformity, input requirements, scalability, and cost. The successful development of genomic partitioning strategies will be key to taking full advantage of massively parallel sequencing, at least until resequencing of complete mammalian genomes becomes widely affordable.

引用

页码：263 / 284

页数：22

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