高通量测序技术在个性化医疗中的应用

发布时间：2018-01-14 06:26

本文关键词：高通量测序技术在个性化医疗中的应用　出处：《上海交通大学》2012年博士论文　论文类型：学位论文

【摘要】：高通量测序技术对于生物学研究来说是一次飞跃性的提高，它对于传统医学和疾病研究而言更是一次革命性的改变，特别是对未来个性化医疗的普及和发展起着非常关键的作用。本文从多个方面对高通量测序技术进行了介绍，通过比较高通量测序技术与其它技术在组织表达谱研究中的应用，从能检测到的基因总量、不同技术间的相关性、技术的灵敏性等多个方面，阐述了高通量测序技术相对于过去方法能检测到更多的基因和未知的转录本并且能检测到表达丰度很低的基因，具有更好的准确性、灵敏性和性价比，同时还提供了一种分析表达基因、基因表达相关性的技术框架以及一套肝脏和肾脏组织中表达基因的目录，为深入了解人体组织和疾病提供了宝贵的资源。接着，为高通量测序数据构建了一套方便使用、用户友好的通用分析平台，该平台能应用于研究人员非常关注的多种高通量测序应用领域，包括了重测序、ChIP-Seq测序等。随着高通量测序成本的不断降低以及测序数据的几何增长，通用数据分析平台的建立和完善对于更快、更方便地获取分析结果有着巨大的应用前景。最后，着重介绍了一个个性化突变数据库的建立，，通过对各种已有数据库的收集、整理以及对多种突变检验和打分工具的使用，构建了一个较为全面的以人类DNA突变为核心的包含了各种突变相关信息的关系型数据库。同时在数据库的基础上，加入了个性化突变数据提交、存储和注释等功能，让用户可以方便地为自己个人的突变信息进行注释，从而更好地了解自身的健康情况等。全文的工作不仅系统地阐述了高通量测序技术在生物医学领域的应用，并且通过构建两套不同的平台，为全面分析了解高通量测序数据并挖掘数据背后的生物学意义提供了重要的技术和数据基础，为个性化医疗更好的应用提供了便利。随着高通量测序技术的继续发展和个性化医疗的不断普及，不但会给生命科学研究带来更多的资源和便利，也将对改善人类健康及生活质量起到巨大的作用。
[Abstract]:High throughput sequencing technology is a leap of improvement for biological studies, it is for traditional medicine and disease research is a revolutionary change, especially plays a key role in the development and popularization of the future of personalized medicine. This paper from the aspects of high-throughput sequencing technology was introduced, through to compare the expression of high-throughput sequencing technology and other technology in the application of tissue spectrum, from the total number of genes can be detected, the correlation between different technologies, many aspects of technology sensitivity described, high-throughput sequencing technology compared to the old method can detect the gene transcription and the more unknown and can be detected the expression of low abundance genes, with better accuracy, sensitivity and cost, but also provides an analysis of gene expression, gene expression and correlation with a technical framework The directory set of gene expression in liver and kidney, and provide a valuable resource for understanding human tissue and disease. Then, construct a set of convenient use for high-throughput sequencing data analysis platform, general user friendly, the platform can be a variety of high-throughput sequencing applications applied to researchers are very concerned, including re sequencing, ChIP-Seq sequencing. With high-throughput sequencing continue to reduce the cost and the geometric growth of the sequencing data, general data analysis to establish and perfect platform for faster and more convenient to get the analysis results have great prospects. Finally, focuses on the establishment of a personalized mutation database, through a variety of the database has been collected, sorted and use inspection and scoring tools for a variety of mutations, we constructed a comprehensive human DNA mutation as the core contains all kinds of process The relational database change related information. At the same time on the basis of the database, into a personalized mutation data submission, storage and annotation functions, so that users can easily annotate their mutation information personal, so as to better understand their health condition. The work not only discussed the application of high throughput sequencing technology in the biomedical field, and through the construction of two sets of different platforms, provides an important technical foundation for the comprehensive analysis of data and understand the biological significance of high-throughput sequencing data mining and data behind, provides convenience for the application of personalized medicine better. With the advent of high-throughput sequencing technology continues to develop and the increasing popularity of personalized medicine that will not only bring more resources and convenience to the life science research, will also be a huge role in improving human health and quality of life.

【学位授予单位】：上海交通大学
【学位级别】：博士
【学位授予年份】：2012
【分类号】：R346

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