Targeted enrichment of genomic DNA regions for next-generation sequencing

被引：182

作者：

Mertes, Florian ^{[1
]}

ElSharawy, Abdou

Sauer, Sascha ^{[1
]}

van Helvoort, Joop M. L. M.

van der Zaag, P. J. ^{[2
]}

Franke, Andre

Nilsson, Mats ^{[3
]}

Lehrach, Hans ^{[1
]}

Brookes, Anthony J. ^{[4
]}

机构：

[1] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[2] Philips Res, Eindhoven, Netherlands

[3] Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden

[4] Univ Leicester, Leicester LE1 7RH, Leics, England

来源：

BRIEFINGS IN FUNCTIONAL GENOMICS | 2011年 / 10卷 / 06期

关键词：

targeted enrichment; next-generation sequencing; genome partitioning; exome; genetic variation; BY-SYNTHESIS TECHNOLOGY; MULTIPLEX AMPLIFICATION; FUNCTIONAL GENOMICS; SNP DISCOVERY; LARGE SETS; PCR; SELECTION; PLATFORM; EXOME; GENE;

D O I：

10.1093/bfgp/elr033

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

In this review, we discuss the latest targeted enrichment methods and aspects of their utilization along with second-generation sequencing for complex genome analysis. In doing so, we provide an overview of issues involved in detecting genetic variation, for which targeted enrichment has become a powerful tool. We explain how targeted enrichment for next-generation sequencing has made great progress in terms of methodology, ease of use and applicability, but emphasize the remaining challenges such as the lack of even coverage across targeted regions. Costs are also considered versus the alternative of whole-genome sequencing which is becoming ever more affordable. We conclude that targeted enrichment is likely to be the most economical option for many years to come in a range of settings.

引用

页码：374 / 386

页数：13

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