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| 加快建设高通量测序标准数据库，实现全民“精准医疗”的标准化 |
| Accelerate the Construction of High-Throughput Sequencing Standard Database to Achieve Standardization of |
| 投稿时间：2019-07-09 修订日期：2019-08-21 |
| DOI： |
| 中文关键词: 高通量测序 标准数据库 数据库建设 数据解读 区块链 科学监管 |
| 英文关键词: High-throughput sequencing Standard database Database construction Data interpretation Blockchain Scientific supervision |
| 基金项目: |
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| 中文摘要: |
| 目的：为我国高通量测序标准数据库建设提供参考。方法：总结分析国内外高通量测序产品及数据库建设现状，剖析当前我国高通量测序标准数据库建设中亟待解决的问题。结果与结论：高通量测序是精准医疗重要的组成部分，国内外已批准多个高通量测序产品用于癌症等的临床诊治。但是，高通量测序能否精准医疗中发挥更好的作用，还取决于是否有标准数据库用于准确地指导测序数据解读。随着高通量测序技术的发展，海量基因测序数据不断产生，如何建立中国人群基因变异解读标准数据库，用于评估和指导相关检测机构对致病基因的解读具有重大的现实意义，目前急需引入新的数据库建设及数据解读机制，为我国高通量测序行业的标准化健康发展及科学监管提供依据和保障。 |
| 英文摘要: |
| Objective: To provide suggestions for the construction of high-throughput sequencing standard database in China. Methods: The current status of high-throughput sequencing products and database construction at home and abroad were summarized and analyzed, focusing on those urgent problems need to be solved in the development of high-throughput sequencing standard database in China. Results and Conclusion: As an important part of precise medical treatment, a batch of high-throughput sequencing products have been approved for clinical diagnosis and treatment of tumors at home and abroad. However, whether high-throughput sequencing can play a better role in precision medicine also depends on whether there is a standard database for accurately guiding the sequencing data interpretation. With the development of high-throughput sequencing technology, massive gene sequence sequencing data is continuously generated. It is of great practical significance to establish a standard database for interpretation of gene variation in Chinese Population, hopefully contributing to evaluation and guidance of the interpretation of pathogenic genes by relevant detection institutions. At present, it is urgent to introduce a new database construction and data interpretation mechanism, to provide basis and guarantee for the healthy development and scientific supervision of high-throughput sequencing industry in China.
Keywords: High-throughput sequencing; Standard database; Database construction; Data interpretation; Blockchain; Scientific supervision |
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