A comparative analysis of exome capture.
A comparative analysis of exome capture.
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DOI：
10.1186/gb-2011-12-9-r97
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发表时间：
2011-09-29
期刊：
影响因子：
12.3
通讯作者：
McCombie WR
中科院分区：
文献类型：
--
作者：
Parla JS;Iossifov I;Grabill I;Spector MS;Kramer M;McCombie WR
使用商业靶标捕获试剂盒的人类外显子组重新测序已经并正在用于对大量个体进行测序，以寻找与各种人类疾病相关的变异。我们严格评估了两种溶液外显子组捕获试剂盒的性能。这些分析有助于澄清这些数据的优点和局限性，并系统地确定在使用这些数据时应考虑的变量。每个外显子组试剂盒在捕获它们设计要捕获的靶标方面表现良好，这主要对应于人类基因组的共识编码序列(CCDS)注释。此外，根据各自的目标，每个捕获试剂盒与高覆盖率的Illumina测序相结合，产生了高度准确的核苷酸调用。然而，其他数据库，如参考序列收集(RefSeq)，定义了更广泛的外显子组，因此毫不奇怪，外显子组试剂盒没有捕获这些额外的区域。商业外显子组捕获试剂盒提供了一种非常有效的方法，以非常高的精度对基因组的选定区域进行测序。在这里，我们提供的数据有助于指导对来自这些产品的测序数据的关键分析。
Human exome resequencing using commercial target capture kits has been and is being used for sequencing large numbers of individuals to search for variants associated with various human diseases. We rigorously evaluated the capabilities of two solution exome capture kits. These analyses help clarify the strengths and limitations of those data as well as systematically identify variables that should be considered in the use of those data. Each exome kit performed well at capturing the targets they were designed to capture, which mainly corresponds to the consensus coding sequences (CCDS) annotations of the human genome. In addition, based on their respective targets, each capture kit coupled with high coverage Illumina sequencing produced highly accurate nucleotide calls. However, other databases, such as the Reference Sequence collection (RefSeq), define the exome more broadly, and so not surprisingly, the exome kits did not capture these additional regions. Commercial exome capture kits provide a very efficient way to sequence select areas of the genome at very high accuracy. Here we provide the data to help guide critical analyses of sequencing data derived from these products.
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