精准肿瘤学中变体解释的知识库和软件支持。
Knowledge bases and software support for variant interpretation in precision oncology.
机构信息
Digital Health Center, Hasso Plattner Institute (HPI), University of Potsdam, Prof.-Dr.-Helmert-Str. 2-3, 14482 Potsdam, Germany.
Department of Translational Medical Oncology (TMO), National Center for Tumor Diseases (NCT) Heidelberg, German Cancer Research Center (DKFZ) Heidelberg, Im Neuenheimer Feld 460, 69120 Heidelberg, Germany.
出版信息
Brief Bioinform. 2021 Nov 5;22(6). doi: 10.1093/bib/bbab134.
Precision oncology is a rapidly evolving interdisciplinary medical specialty. Comprehensive cancer panels are becoming increasingly available at pathology departments worldwide, creating the urgent need for scalable cancer variant annotation and molecularly informed treatment recommendations. A wealth of mainly academia-driven knowledge bases calls for software tools supporting the multi-step diagnostic process. We derive a comprehensive list of knowledge bases relevant for variant interpretation by a review of existing literature followed by a survey among medical experts from university hospitals in Germany. In addition, we review cancer variant interpretation tools, which integrate multiple knowledge bases. We categorize the knowledge bases along the diagnostic process in precision oncology and analyze programmatic access options as well as the integration of knowledge bases into software tools. The most commonly used knowledge bases provide good programmatic access options and have been integrated into a range of software tools. For the wider set of knowledge bases, access options vary across different parts of the diagnostic process. Programmatic access is limited for information regarding clinical classifications of variants and for therapy recommendations. The main issue for databases used for biological classification of pathogenic variants and pathway context information is the lack of standardized interfaces. There is no single cancer variant interpretation tool that integrates all identified knowledge bases. Specialized tools are available and need to be further developed for different steps in the diagnostic process.
精准肿瘤学是一个快速发展的跨学科医学专业。综合癌症面板在全球范围内的病理科越来越普及,这就迫切需要可扩展的癌症变异注释和分子信息治疗建议。大量主要由学术界驱动的知识库需要软件工具来支持多步骤的诊断过程。我们通过对现有文献的回顾以及对德国大学医院的医学专家进行调查,得出了一份与变异解释相关的知识库的综合清单。此外,我们还回顾了整合多个知识库的癌症变异解释工具。我们根据精准肿瘤学的诊断过程对知识库进行分类,并分析了编程访问选项以及知识库在软件工具中的整合情况。最常用的知识库提供了良好的编程访问选项,并已集成到一系列软件工具中。对于更广泛的知识库,访问选项因诊断过程的不同部分而有所不同。对于涉及变异的临床分类和治疗建议的信息,编程访问受到限制。用于致病性变异的生物学分类和途径上下文信息的数据库的主要问题是缺乏标准化接口。目前还没有一个单一的癌症变异解释工具能够整合所有确定的知识库。有专门的工具可用,并且需要针对诊断过程的不同步骤进一步开发。