本文關(guān)鍵詞：高通量測序技術(shù)在個(gè)性化醫(yī)療中的應(yīng)用　出處：《上海交通大學(xué)》2012年博士論文　論文類型：學(xué)位論文

  更多相關(guān)文章： 高通量測序技術(shù) 個(gè)性化醫(yī)療 轉(zhuǎn)錄組分析 通用數(shù)據(jù)分析平臺 個(gè)性化突變數(shù)據(jù)庫

【摘要】：高通量測序技術(shù)對于生物學(xué)研究來說是一次飛躍性的提高，它對于傳統(tǒng)醫(yī)學(xué)和疾病研究而言更是一次革命性的改變，特別是對未來個(gè)性化醫(yī)療的普及和發(fā)展起著非常關(guān)鍵的作用。本文從多個(gè)方面對高通量測序技術(shù)進(jìn)行了介紹，通過比較高通量測序技術(shù)與其它技術(shù)在組織表達(dá)譜研究中的應(yīng)用，從能檢測到的基因總量、不同技術(shù)間的相關(guān)性、技術(shù)的靈敏性等多個(gè)方面，闡述了高通量測序技術(shù)相對于過去方法能檢測到更多的基因和未知的轉(zhuǎn)錄本并且能檢測到表達(dá)豐度很低的基因，具有更好的準(zhǔn)確性、靈敏性和性價(jià)比，同時(shí)還提供了一種分析表達(dá)基因、基因表達(dá)相關(guān)性的技術(shù)框架以及一套肝臟和腎臟組織中表達(dá)基因的目錄，為深入了解人體組織和疾病提供了寶貴的資源。接著，為高通量測序數(shù)據(jù)構(gòu)建了一套方便使用、用戶友好的通用分析平臺，該平臺能應(yīng)用于研究人員非常關(guān)注的多種高通量測序應(yīng)用領(lǐng)域，包括了重測序、ChIP-Seq測序等。隨著高通量測序成本的不斷降低以及測序數(shù)據(jù)的幾何增長，通用數(shù)據(jù)分析平臺的建立和完善對于更快、更方便地獲取分析結(jié)果有著巨大的應(yīng)用前景。最后，著重介紹了一個(gè)個(gè)性化突變數(shù)據(jù)庫的建立，，通過對各種已有數(shù)據(jù)庫的收集、整理以及對多種突變檢驗(yàn)和打分工具的使用，構(gòu)建了一個(gè)較為全面的以人類DNA突變?yōu)楹诵牡陌烁鞣N突變相關(guān)信息的關(guān)系型數(shù)據(jù)庫。同時(shí)在數(shù)據(jù)庫的基礎(chǔ)上，加入了個(gè)性化突變數(shù)據(jù)提交、存儲和注釋等功能，讓用戶可以方便地為自己個(gè)人的突變信息進(jìn)行注釋，從而更好地了解自身的健康情況等。全文的工作不僅系統(tǒng)地闡述了高通量測序技術(shù)在生物醫(yī)學(xué)領(lǐng)域的應(yīng)用，并且通過構(gòu)建兩套不同的平臺，為全面分析了解高通量測序數(shù)據(jù)并挖掘數(shù)據(jù)背后的生物學(xué)意義提供了重要的技術(shù)和數(shù)據(jù)基礎(chǔ)，為個(gè)性化醫(yī)療更好的應(yīng)用提供了便利。隨著高通量測序技術(shù)的繼續(xù)發(fā)展和個(gè)性化醫(yī)療的不斷普及，不但會給生命科學(xué)研究帶來更多的資源和便利，也將對改善人類健康及生活質(zhì)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.

【學(xué)位授予單位】：上海交通大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2012
【分類號】：R346

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