Dept. of Medical Bioinformatics, University Medical Center Göttingen, Germany.
MARGenomics, Hospital del Mar Medical Research Institute (IMIM), Spain.
Stud Health Technol Inform. 2022 Aug 17;296:73-80. doi: 10.3233/SHTI220806.
Next-generation sequencing methods continuously provide clinicians and researchers in precision oncology with growing numbers of genomic variants found in cancer. However, manually interpreting the list of variants to identify reliable targets is an inefficient and cumbersome process that does not scale with the increasing number of cases. Support by computer systems is needed for the analysis of large scale experiments and clinical studies to identify new targets and therapies, and user-friendly applications are needed in molecular tumor boards to support clinicians in their decision-making processes. The MTB-Report tool annotates, filters and sorts genetic variants with information from public databases, providing evidence on actionable variants in both scenarios. A web interface supports medical doctors in the tumor board, and a command line mode allows batch processing of large datasets. The MTB-Report tool is available as an R implementation as well as a Docker image to provide a tool that runs out-of-the-box. Moreover, containerization ensures a stable application that delivers reproducible results over time. A public version of the web interface is available at: http://mtb.bioinf.med.uni-goettingen.de/mtb-report.
下一代测序方法不断为精准肿瘤学的临床医生和研究人员提供越来越多在癌症中发现的基因组变异。然而，手动解释变异列表以识别可靠的靶标是一个效率低下且繁琐的过程，无法适应越来越多的病例。需要计算机系统来分析大规模实验和临床研究，以识别新的靶标和疗法，并且需要用户友好的应用程序在分子肿瘤委员会中支持临床医生的决策过程。MTB-Report 工具使用来自公共数据库的信息注释、过滤和排序遗传变异，为这两种情况下的可操作变异提供证据。一个 Web 界面支持肿瘤委员会中的医生，命令行模式允许对大型数据集进行批处理。MTB-Report 工具作为 R 实现和 Docker 镜像提供，以提供开箱即用的工具。此外，容器化确保了应用程序的稳定性，随着时间的推移提供可重复的结果。Web 界面的公共版本可在：http://mtb.bioinf.med.uni-goettingen.de/mtb-report 获得。
