Targeted sequencing of the human X chromosome exome
Targeted sequencing of the human X chromosome exome
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DOI：
10.1016/j.ygeno.2011.04.004
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发表时间：
2011-10-01
期刊：
影响因子：
4.4
通讯作者：
Zwick, Michael E.
中科院分区：
文献类型：
--
作者：
Mondal, Kajari;Shetty, Amol Carl;Zwick, Michael E.
我们使用RainDance Technologies（RDT）扩展内容文库来富集来自26个男性样品的人类X染色体外显子组（2.5Mb），然后进行Illumina测序。我们的多重引物库在具有11，845个不同PCR扩增子的单管中覆盖了98.05%的人类X染色体外显子组。24个男性样本的Illumina测序显示了97%的靶向序列的覆盖率。来自2个HapMap样本的序列证实，在HapMap项目成功分型的位点，缺失数据率为2-3%，与报告的HapMap基因型相比，准确度至少接近99.5%。我们证明RDT扩展内容库可以有效地丰富并实现人类X染色体外显子组的常规测序，这表明该平台具有广泛的潜在研究和临床应用。(C)2011 Elsevier Inc. All rights reserved.
We used a RainDance Technologies (RDT) expanded content library to enrich the human X chromosome exome (2.5 Mb) from 26 male samples followed by Illumina sequencing. Our multiplex primer library covered 98.05% of the human X chromosome exome in a single tube with 11,845 different PCR amplicons. Illumina sequencing of 24 male samples showed coverage for 97% of the targeted sequences. Sequence from 2 HapMap samples confirmed missing data rates of 2-3% at sites successfully typed by the HapMap project, with an accuracy of at least similar to 99.5% as compared to reported HapMap genotypes. Our demonstration that a RDT expanded content library can efficiently enrich and enable the routine sequencing of the human X chromosome exome suggests a wide variety of potential research and clinical applications for this platform. (C) 2011 Elsevier Inc. All rights reserved.