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用于确定基因变异临床可操作性的精准肿瘤知识库综述。

A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants.

作者信息

Li Xuanyi, Warner Jeremy L

机构信息

Vanderbilt University School of Medicine, Nashville, TN, United States.

Department of Medicine, Vanderbilt University, Nashville, TN, United States.

出版信息

Front Cell Dev Biol. 2020 Feb 11;8:48. doi: 10.3389/fcell.2020.00048. eCollection 2020.

Abstract

The increased availability of tumor genetic testing and targeted cancer therapies contributes to the advancement of precision medicine in the field of oncology. Precision oncology knowledgebases provide a way of organizing clinically relevant genetic information in a way that is easily accessible for both oncologists and patients, facilitating the genetic-based clinical decision making. Many organizations and companies have built precision oncology knowledgebases, intended for multiple users. In general, these knowledgebases offer information on cancer-related genetic variants as well as their associated diagnostic, prognostic, and therapeutic implications, but they often differ in their information curations, designs, and user experiences. It is advisable that oncologists use multiple knowledgebases during their practice to have them complement each other. In the future, convergence toward common standards and formats is needed to ensure that the comprehensive knowledge across all sources can be unified to bring the oncology community closer to the achievement of the goal of precision oncology.

摘要

肿瘤基因检测和靶向癌症治疗的可及性增加推动了肿瘤学领域精准医学的发展。精准肿瘤学知识库提供了一种组织临床相关基因信息的方式,使肿瘤学家和患者都能轻松获取,有助于基于基因的临床决策。许多组织和公司都建立了面向多个用户的精准肿瘤学知识库。一般来说,这些知识库提供有关癌症相关基因变异及其相关诊断、预后和治疗意义的信息,但它们在信息整理、设计和用户体验方面往往存在差异。肿瘤学家在实践中使用多个知识库以使它们相互补充是明智的。未来,需要朝着通用标准和格式趋同,以确保所有来源的全面知识能够统一起来,使肿瘤学界更接近实现精准肿瘤学的目标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5639/7026022/8b39fb297343/fcell-08-00048-g001.jpg

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