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PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs

文献类型：期刊论文

作者Yu, Ying1,2; Wang, Yunjin1,2; Xia, Zhaojie3; Zhang, Xiangyu4; Jin, Kailiang4; Yang, Jingcheng1,2; Ren, Luyao1,2; Zhou, Zheng1,2; Yu, Dong1,2; Qing, Tao1,2
刊名NUCLEIC ACIDS RESEARCH
出版日期2019-01-08
卷号47期号:D1页码:D1090-D1101
ISSN号0305-1048
DOI10.1093/nar/gky1042
英文摘要One important aspect of precision medicine aims to deliver the right medicine to the right patient at the right dose at the right time based on the unique omics' features of each individual patient, thus maximizing drug efficacy and minimizing adverse drug reactions. However, fragmentation and heterogeneity of available data makes it challenging to readily obtain first-hand information regarding some particular diseases, drugs, genes and variants of interest. Therefore, we developed the Precision Medicine Knowledgebase (PreMedKB) by seamlessly integrating the four fundamental components of precision medicine: diseases, genes, variants and drugs. PreMedKB allows for search of comprehensive information within each of the four components, the relationships between any two or more components, and importantly, the interpretation of the clinical meanings of a patient's genetic variants. PreMedKB is an efficient and user-friendly tool to assist researchers, clinicians or patients in interpreting a patient's genetic profile in terms of discovering potential pathogenic variants, recommending therapeutic regimens, designing panels for genetic testing kits, and matching patients for clinical trials. PreMedKB is freely accessible and available at http://www.fudan-pgx.org/premedkb/index.html#/home.
WOS关键词DATABASE ; ANNOTATION ; GENOMICS ; SPINK1 ; UPDATE ; ROLES
资助项目National Natural Science Foundation of China[31720103909] ; National Natural Science Foundation of China[31471239] ; National Natural Science Foundation of China[31671368] ; National Natural Science Foundation of China[31601085] ; National Key R&D Project of China[2016YFC0901704] ; National Key R&D Project of China[2017YFC0907502] ; National Key R&D Project of China[2017YFC0907000] ; National Key R&D Project of China[2017YFF0204600] ; Shanghai Municipal Science and Technology Major Project[2017SHZDZX01] ; 111 Project[B13016]
WOS研究方向Biochemistry & Molecular Biology
语种英语
WOS记录号WOS:000462587400150
出版者OXFORD UNIV PRESS
资助机构National Natural Science Foundation of China ; National Key R&D Project of China ; Shanghai Municipal Science and Technology Major Project ; 111 Project
源URL[http://ir.ipe.ac.cn/handle/122111/28355]  
专题中国科学院过程工程研究所
通讯作者Zheng, Yuanting; Guo, Li
作者单位1.Fudan Univ, State Key Lab Genet Engn, Sch Life Sci, Shanghai 200438, Peoples R China
2.Fudan Univ, Shanghai Canc Hosp, Canc Inst, Shanghai 200438, Peoples R China
3.Chinese Acad Sci, State Key Lab Multiphase Complex Syst, Inst Proc Engn, Beijing 100190, Peoples R China
4.JD Com Co Ltd, Beijing 100080, Peoples R China
5.Fudan Univ, State Key Lab Genet Engn, Collaborat Innovat Ctr Genet & Dev, Sch Life Sci, Shanghai 200438, Peoples R China
6.Fudan Univ, Human Phenome Inst, Shanghai 201203, Peoples R China
7.Fudan Univ, Fudan Gospel Joint Res Ctr Precis Med, Shanghai 200438, Peoples R China
8.Univ Chinese Acad Sci, Sch Chem Engn, Beijing 100049, Peoples R China
推荐引用方式
GB/T 7714		 Yu, Ying,Wang, Yunjin,Xia, Zhaojie,et al. PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs[J]. NUCLEIC ACIDS RESEARCH,2019,47(D1):D1090-D1101.
APA Yu, Ying.,Wang, Yunjin.,Xia, Zhaojie.,Zhang, Xiangyu.,Jin, Kailiang.,...&Shi, Leming.(2019).PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs.NUCLEIC ACIDS RESEARCH,47(D1),D1090-D1101.
MLA Yu, Ying,et al."PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs".NUCLEIC ACIDS RESEARCH 47.D1(2019):D1090-D1101.

入库方式： OAI收割

来源：过程工程研究所

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