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

doi:10.1093/nar/gky1042

	PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs
	Yu, Ying 1,2; Wang, Yunjin 1,2; Xia, Zhaojie 3; Zhang, Xiangyu 4; Jin, Kailiang 4; Yang, Jingcheng 1,2; Ren, Luyao 1,2; Zhou, Zheng 1,2; Yu, Dong 1,2; Qing, Tao 1,2
刊名	NUCLEIC ACIDS RESEARCH
	2019-01-08
卷号	47 期号:D1 页码:D1090-D1101
ISSN号	0305-1048
DOI	10.1093/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.
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关键词	DATABASE ; ANNOTATION ; GENOMICS ; SPINK1 ; UPDATE ; ROLES
WOS研究方向	Biochemistry & Molecular Biology
语种	英语
出版者	OXFORD UNIV PRESS
WOS记录号	WOS:000462587400150
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
内容类型	期刊论文
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.