Development of innovative mutation test

我在这里提出了一种预期的突变检测方法，它通过使用SMRT(单分子实时DNA测序)技术来估计任何样本中任何基因的体细胞点突变的频率和频谱。突变检测的基本概念非常简单：只需准备目标模板并对其进行准确测序。在这个项目中，我考虑了关于如何制作模板以及如何消除DNA模板损坏造成的人工突变的想法。另一方面，我使用Illumina下一代DNA测序仪开发了一种全基因组突变测试。

I proposed here an anticipated mutation assay which estimates the frequency and spectrum of somatic point mutations in any genes of any samples by using SMRT.(Single Molecule Real Time) DNA sequencing technology. The basic concept of the mutation assay is very simple : just prepare the target template and sequence it accurately. In this project, I considered ideas on how to make the template and how to eliminate artifactual mutations caused by damage to the DNA template. On the other hands, I developed a genome-wide mutation assay using Illumina next-generation DNA sequencer.