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靶向富集策略概述

Overview of Target Enrichment Strategies.

作者信息

Kozarewa Iwanka, Armisen Javier, Gardner Andrew F, Slatko Barton E, Hendrickson C L

机构信息

Oncology Translational Science, Innovative Medicines & Early Development, AstraZeneca, Cambridge, United Kingdom.

Horizon Discovery Group, Cambridge, United Kingdom.

出版信息

Curr Protoc Mol Biol. 2015 Oct 1;112:7.21.1-7.21.23. doi: 10.1002/0471142727.mb0721s112.

Abstract

Target enrichment is commonly used in next generation sequencing (NGS) workflows to eliminate genomic DNA regions that are not of interest for a particular experiment. By only targeting specific regions such as exons, one can obtain greater depth of DNA sequencing coverage for regions of interest or increase the sampling numbers of individuals, thereby saving both time and cost. This overview of target enrichment strategies provides a high-level review of distinct approaches to capture specific sequences: (a) hybridization-based strategies, (b) transposon-mediated fragmentation (tagmentation), (c) molecular inversion probes (MIPs), and (d) singleplex and multiplex polymerase chain reaction (PCR) target enrichment. Strategies for assay design and performance criteria are also discussed. Other platforms currently in development are also briefly described.

摘要

靶向富集常用于下一代测序(NGS)工作流程中,以去除特定实验不感兴趣的基因组DNA区域。通过仅靶向特定区域(如外显子),可以获得目标区域更高深度的DNA测序覆盖度,或增加个体的采样数量,从而节省时间和成本。本靶向富集策略概述对捕获特定序列的不同方法进行了高层次综述:(a)基于杂交的策略,(b)转座子介导的片段化(标签化),(c)分子倒置探针(MIP),以及(d)单重和多重聚合酶链反应(PCR)靶向富集。还讨论了分析设计策略和性能标准。同时也简要描述了目前正在开发的其他平台。

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