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The Application Of High-throughput Sequencing Technologies In The Field Of Personalized Medicine

Posted on:2013-02-23Degree:DoctorType:Dissertation
Country:ChinaCandidate:J PingFull Text:PDF
GTID:1114330362967338Subject:Biomedical engineering
Abstract/Summary:PDF Full Text Request
High-throughput sequencing technology is a leaping enhancement for biologicalresearch, and it is a revolutionary change in terms of traditional medicine and diseaseresearch, especially it plays a very critical role in the popularization and developmentof personalized medicine in the future. This article describes the high-throughputsequencing technology from multiple angles. Through the comparison of applicationsin transcriptome research of liver and kidney tissues by high-throughput sequencingand other traditional technologies from different ways, like the total amount ofdetected genes, relationship between differenct technologies, and technical sensitivity,high-throughput sequencing technology can identify more genes, unknown transcriptsand genes with very low expression abundance. High-throughput sequencingtechnology is the most accurate, sensitive and cost-effective. This work also providesa technical framework for analysis of expressed genes and relationship of geneexpression and a catalog of expressed genes in human liver and kidney tissues, and itprovides a valuable resource for insight into human tissues and diseases. Meanwhile,an easy-to-use and user-friendly general analysis workflow was constructed foranalysis of high-throughput sequencing data. This platform can be applied to a varietyof high-throughput sequencing applications areas with great concern, includinggenome re-sequencing, ChIP-Seq sequencing and so on. With the costs ofhigh-throughput sequencing continue to reduce and the geometric growth of thesequencing data, the establishment and improvement of general data analysisworkflow has a great prospect for faster and more convenient access ofhigh-throughput sequencing results. Finally, we highlighted the establishment of apersonalized mutation database. By collecting data from a variety of existingdatabases and utilizing several mutation tests and scoring tools, a morecomprehensive relational database based on human DNA variants was built. On thebasis of the mutation database, submission, storage, and annotation functions of personalized mutation data were added. Users can easily annotate their own personalvariant data, so that they can know their own body and health much more. The fullarticle not only systematically expounded the application of high-throughputsequencing technologies in the biomedical field, but also provided important technicaland data basis for comprehensive analysis of igh-throughput sequencing data andmining the biological significance of the data and facilitated the application ofpersonalized medicine better. With the development of high-throughput sequencingtechnologies and the growing popularity of personalized medicine, life scienceresearch will get much more resources and facilities, and it will play a huge role inimproving human health and quality of life.
Keywords/Search Tags:High-throughput sequencing technology, Personalized medicine, transcriptome analysis, General data analysis workflow, Personalized mutationdatabase
PDF Full Text Request
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