Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

被引：34

作者：

Altmueller, Janine ^{[1
]}

Budde, Birgit S. ^{[1
]}

Nuernberg, Peter ^{[1
,2
,3
]}

机构：

[1] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany

[2] Univ Cologne, Cluster Excellence Cellular Stress Responses Agin, D-50674 Cologne, Germany

[3] Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany

来源：

BIOLOGICAL CHEMISTRY | 2014年 / 395卷 / 02期

关键词：

gene panel sequencing; target enrichment; FFPE TUMOR-TISSUES; MUTATIONS; QUALITY; GENOME; GENES; TOOL;

D O I：

10.1515/hsz-2013-0199

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：

Targeted re-sequencing such as gene panel sequencing (GPS) has become very popular in medical genetics, both for research projects and in diagnostic settings. The technical principles of the different enrichment methods have been reviewed several times before; however, new enrichment products are constantly entering the market, and researchers are often puzzled about the requirement to take decisions about long-term commitments, both for the enrichment product and the sequencing technology. This review summarizes important considerations for the experimental design and provides helpful recommendations in choosing the best sequencing strategy for various research projects and diagnostic applications.

引用

页码：231 / 237

页数：7

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