State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Hospital/Cancer Institute, Fudan University, Shanghai 200438, China.
State Key Laboratory of Multiphase Complex Systems, Institute of Process Engineering, Chinese Academy of Sciences, Beijing 100190, China.
Nucleic Acids Res. 2019 Jan 8;47(D1):D1090-D1101. doi: 10.1093/nar/gky1042.
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.
精准医学的一个重要目标是根据每个个体患者独特的“组学”特征，在适当的时间为适当的患者提供适当剂量的适当药物，从而最大限度地提高药物疗效，最小化药物不良反应。然而，现有数据的碎片化和异质性使得难以轻易获得某些特定疾病、药物、基因和感兴趣的变异的第一手信息。因此，我们通过无缝整合精准医学的四个基本组成部分（疾病、基因、变异和药物），开发了精准医学知识库（PreMedKB）。PreMedKB 允许在四个组成部分中的每一个部分中搜索全面的信息、任意两个或更多个组成部分之间的关系，并且重要的是，可以解释患者遗传变异的临床意义。PreMedKB 是一个高效且用户友好的工具，可帮助研究人员、临床医生或患者根据发现潜在的致病变异、推荐治疗方案、设计基因检测试剂盒的面板以及为临床试验匹配患者，来解释患者的遗传谱。PreMedKB 可免费访问，网址为：http://www.fudan-pgx.org/premedkb/index.html#/home。
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