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中国生物工程杂志

CHINA BIOTECHNOLOGY
中国生物工程杂志
中国生物工程杂志  2019, Vol. 39 Issue (2): 101-111    DOI: 10.13523/j.cb.20190212
精准医疗与伴随诊断专刊     
二代基因测序数据管理和大数据平台在精准医学中的应用
武奥申,刘小娜,刘昀赫,刘刚,刘雷()
复旦大学生物医学研究院 上海 200032
Application of Second Generation Gene Sequencing Data Management and Big Data Platform in Precision Medicine
Ao-shen WU,Xiao-na LIU,Yun-he LIU,Gang LIU,Lei LIU()
Institute of Biological Sciences, Fudan University, Beijing 200032,China
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摘要：

精准医学集合了多种数据,包括组学、临床、环境和行为等,是对疾病进行个性化治疗、预防和管理的科学。随着基因测序费用的大幅下降,人们对肿瘤等疾病的认识从传统病理到分子水平的飞跃等,相关科学的发展和普及推动了精准医学的诞生和发展,将更加深远地影响着人类的健康。本文介绍了精准医学的概念、目的及应用,介绍了二代DNA测序技术在精准医学中的应用,认为基因组学数据、样本管理、数据质量控制标准以及数据管理平台等是实现精准医学的基础,智能化精准医疗将是来的发展方向。进行展望的同时,也认为基因组学海量数据的规模特点、各种健康应用在推动数据管理平台的发展的同时,也对其演进提出了挑战。
关键词： 精准医学;  组学数据;  临床数据;  数据安全;  人工智能    
Abstract:

Precision medicine integrates multiple types of data, including -omics, clinical, environmental and behavioral data to facilitate the personalized therapy, prevention and management. The cost reduction of gene/genome sequencing, the understanding of cancers from pathology to molecular level, and improvement of some subjects and technologies promoted the formation and development of precision medicine. The precision medicine will have a huge impact on human health. In this article, concept, purpose and application of precision was introduced, and application of next-generation DNA sequencing in precision medicine was also presented. The foundation of the precision medicine is genomic data, sample management of samples, and data quality control. Artificial intelligence is the future of precision medicine. Meanwhile, the characteristics of genomic data and the management of various health-related data are also a huge challenge for precision medicine.
Key words: Precision medicine    Omics data    Clinical data    Data security    Artificial intelligence
收稿日期: 2019-01-10 出版日期: 2019-03-26
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武奥申
刘小娜
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引用本文:

武奥申,刘小娜,刘昀赫,刘刚,刘雷. 二代基因测序数据管理和大数据平台在精准医学中的应用[J]. 中国生物工程杂志, 2019, 39(2): 101-111.

Ao-shen WU,Xiao-na LIU,Yun-he LIU,Gang LIU,Lei LIU. Application of Second Generation Gene Sequencing Data Management and Big Data Platform in Precision Medicine. China Biotechnology, 2019, 39(2): 101-111.

链接本文:

https://manu60.magtech.com.cn/biotech/CN/10.13523/j.cb.20190212    或    https://manu60.magtech.com.cn/biotech/CN/Y2019/V39/I2/101

图1  二代测序技术的发展
图2  生物网络大数据平台
图3  从生物网络到精准医学知识库技术路线
图4  神经胶质瘤分级深度学习框架[34]
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