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引用次数: 0
摘要
变体识别管道的互操作性是跨肿瘤研究中心和医院实现一致临床护理的基础。在这里,我们提出了一个使用ONCOLINER的协议,这是一个评估、改进和协调多个管道体细胞变异发现的平台。我们描述了获取基准数据集和执行用户变量调用管道的步骤。然后,我们详细介绍了执行分析的程序,以生成用户友好的报告,显示每个肿瘤基因组分析的质量、范围和适用的改进。有关本协议使用和执行的完整细节,请参阅Martín et al.1。
Protocol for the assessment, improvement, and harmonization of somatic variant calling using ONCOLINER.
The interoperability of variant identification pipelines is fundamental for achieving consistent clinical care across oncology research centers and hospitals. Here, we present a protocol for using ONCOLINER, a platform for the assessment, improvement, and harmonization of somatic variant discovery of multiple pipelines. We describe steps for acquiring benchmarking datasets and executing the user variant calling pipeline. We then detail the procedures for performing analyses to produce user-friendly reports showing the quality, scope, and applicable improvements for each tumor genome analysis. For complete details on the use and execution of this protocol, please refer to Martín et al.1.