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Clinical genomics information management software linking cancer genome sequence and clinical decisions

机译：临床基因组信息管理软件将癌症基因组序列与临床决策联系起来

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Using sequencing information to guide clinical decision-making requires coordination of a diverse set of people and activities. In clinical genomics, the process typically includes sample acquisition, template preparation, genome data generation, analysis to identify and confirm variant alleles, interpretation of clinical significance, and reporting to clinicians. We describe a software application developed within a clinical genomics study, to support this entire process. The software application tracks patients, samples, genomic results, decisions and reports across the cohort, monitors progress and sends reminders, and works alongside an electronic data capture system for the trial's clinical and genomic data. It incorporates systems to read, store, analyze and consolidate sequencing results from multiple technologies, and provides a curated knowledge base of tumor mutation frequency (from the COSMIC database) annotated with clinical significance and drug sensitivity to generate reports for clinicians. By supporting the entire process, the application provides deep support for clinical decision making, enabling the generation of relevant guidance in reports for verification by an expert panel prior to forwarding to the treating physician.
机译：使用测序信息指导临床决策需要协调各种人员和活动。在临床基因组学中，该过程通常包括样品采集，模板制备，基因组数据生成，分析以识别和确认变异等位基因，解释临床意义以及向临床医生报告。我们描述了在临床基因组学研究中开发的软件应用程序，以支持整个过程。该软件应用程序可跟踪整个队列的患者，样本，基因组结果，决策和报告，监控进度并发送提醒，并与电子数据捕获系统配合使用，以用于试验的临床和基因组数据。它整合了读取，存储，分析和合并多种技术测序结果的系统，并提供了具有临床意义和药物敏感性的肿瘤突变频率的精选知识库（来自COSMIC数据库），可为临床医生生成报告。通过支持整个过程，该应用程序为临床决策提供了深层支持，从而可以在报告中生成相关指导，以供专家小组在转交给治疗医师之前进行验证。

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