Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
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DOI：
10.1038/nmeth.1343
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发表时间：
2009-07-01
期刊：
影响因子：
48
通讯作者：
Seidman, Christine E.
中科院分区：
文献类型：
--
作者：
Herman, Daniel S.;Hovingh, G. Kees;Seidman, Christine E.
为了利用现代测序技术进行靶向遗传分析，我们开发了一种杂交富集策略，用于DNA捕获，该策略使用PCR产物作为亚基因组陷阱。我们将这一策略应用于人类基因组的115千碱基，其中包括47个与心血管疾病有关的基因。对捕获的亚基因组文库进行大规模平行测序，查询99.8%的目标核苷酸>= 20次（类似于40,000倍富集），实现了序列变异和拷贝数变异的敏感和特异性检测。
To exploit contemporary sequencing technologies for targeted genetic analyses, we developed a hybridization enrichment strategy for DNA capture that uses PCR products as subgenomic traps. We applied this strategy to 115 kilobases of the human genome encompassing 47 genes implicated in cardiovascular disease. Massively parallel sequencing of captured subgenomic libraries interrogated 99.8% of targeted nucleotides >= 20 times (similar to 40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation.