外显子组和目标区域深度测序
1、 人的外显子测序
来自华盛顿大学的研究者对来自3个家系的4个患有米勒综合症的患者进行了外显子测序，平均覆盖倍数40X，外显子覆盖率~97%。结果发现DHODH基因(参与嘧啶从头合成)的突变可能和米勒综合症相关。
图1 DHODH基因中发现的突变
2、 目标区域重测序
Ryan Tewhey等人利用液相芯片对622个老龄化相关基因进行了富集捕获，捕获区域达3.9Mb，通过Illumina Solexa GAII进行高通量测序。结果显示探针的tiling frequency对目标区域的覆盖均一度有重要影响，SNPs检测的灵敏度达93%，正确率为99%。
图2 Ryan Tewhey等人目标区域捕获测序的试验流程
图3 液相捕获技术的重复性(capture 1 vs capture 2)
相关文献
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2. Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet, 2010, 19(R2): R145-151.
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