中国人血红蛋白病突变数据集和临床辅助决策管理系统

doi:10.16288/j.yczz.19-136

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Hereditas(Beijing) ›› 2019, Vol. 41 ›› Issue (8): 746-753.doi: 10.16288/j.yczz.19-136

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A comprehensive repository of mutation data and a clinical assistant decision system for hemoglobinopathy in the Chinese population

Qianqian Zhang¹,Li Zhang¹,Yaohua Tang²,Xiarong Li³,Xiaopeng Xu³,Ming Qi^2,^4,⁵(),Xiangmin Xu¹()

^1. Department of Medical Genetics, Southern Medical University, Guangzhou 510800, China
^2. DIAN Diagnostics, Hangzhou 310000, China
^3. GeneDock, Beijing 100000, China
^4. Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310058, China
^5. Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou 310016, China

Received:2019-05-13 Revised:2019-07-24 Online:2019-08-20 Published:2019-08-01
Contact: Qi Ming,Xu Xiangmin E-mail:qiming_14618@yahoo.com;xixm@smu.edu.cn
Supported by:
Supported by the National Key Research and Development Program of China(2018YFA0507803);The National Natural Science Foundation of China(31871265)

Abstract

Abstract:

Personal genomic information benefits from accumulated big data and its application is no longer limited to scientific research. Presently, it is undergoing the transformation to daily medical practice. Systematic arrangement, archiving and rational utilization of disease-related genomic information is an important foundation of future precision medicine. Hemoglobinopathy is prevalent in southern China, but its molecular pathological basis has racial specificity. To facilitate clinical diagnosis and genetic screening of hemoglobinopathy in southern China, we established the LOVD gene data management system for the variation and phenotype spectrum of hemoglobinopathy. Then we designed an integrated and efficient on-line auxiliary accurate diagnosis and risk assessment system in order to assist clinicians to make comprehensive diagnosis and genetic counseling in a short time based on cloud standardized annotated library of specific hemoglobinopathy variants and diagnostic repository. The methodology and experience of improving the clinical decision-making efficiency of diseases with big data and artificial intelligence technology can be used as an example in the clinical and preventive application of other diseases.

Key words: LOVD, hemoglobinopathy, mutation spectrum, clinical assist decision

Qianqian Zhang,Li Zhang,Yaohua Tang,Xiarong Li,Xiaopeng Xu,Ming Qi,Xiangmin Xu. A comprehensive repository of mutation data and a clinical assistant decision system for hemoglobinopathy in the Chinese population[J]. Hereditas(Beijing), 2019, 41(8): 746-753.

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A comprehensive repository of mutation data and a clinical assistant decision system for hemoglobinopathy in the Chinese population

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