Target-enrichment strategies for next-generation sequencing

被引：814

作者：

Mamanova, Lira ^{[2
]}

Coffey, Alison J. ^{[2
]}

Scott, Carol E. ^{[2
]}

Kozarewa, Iwanka ^{[2
]}

Turner, Emily H. ^{[1
]}

Kumar, Akash ^{[1
]}

Howard, Eleanor ^{[2
]}

Shendure, Jay ^{[1
]}

Turner, Daniel J. ^{[2
]}

机构：

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

[2] Wellcome Trust Sanger Inst, Cambridge, England

来源：

NATURE METHODS | 2010年 / 7卷 / 02期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

BY-SYNTHESIS TECHNOLOGY; MULTIPLEX AMPLIFICATION; HUMAN GENOME; MUTATION DISCOVERY; PCR AMPLIFICATION; HYBRID SELECTION; PADLOCK PROBES; DNA FRAGMENTS; EXON CAPTURE; LARGE SETS;

D O I：

10.1038/nmeth.1419

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We have not yet reached a point at which routine sequencing of large numbers of whole eukaryotic genomes is feasible, and so it is often necessary to select genomic regions of interest and to enrich these regions before sequencing. There are several enrichment approaches, each with unique advantages and disadvantages. Here we describe our experiences with the leading target-enrichment technologies, the optimizations that we have performed and typical results that can be obtained using each. We also provide detailed protocols for each technology so that end users can find the best compromise between sensitivity, specificity and uniformity for their particular project.

引用

页码：111 / 118

页数：8

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