Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Department of Pathology, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
J Biomed Inform. 2023 Jun;142:104394. doi: 10.1016/j.jbi.2023.104394. Epub 2023 May 18.
The Biomedical Research field is currently advancing to develop Clinical Trials and translational projects based on Real World Evidence. To make this transition feasible, clinical centers need to work toward Data Accessibility and Interoperability. This task is particularly challenging when applied to Genomics, that entered in routinary screening in the last years via mostly amplicon-based Next-Generation Sequencing panels. Said experiments produce up to hundreds of features per patient, and their summarized results are often stored in static clinical reports, making critical information inaccessible to automated access and Federated Search consortia. In this study, we present a reanalysis of 4620 solid tumor sequencing samples in five different histology settings. Furthermore, we describe all the Bioinformatics and Data Engineering processes that were put in place in order to create a Somatic Variant Registry able to deal with the large biotechnological variability of routinary Genomics Profiling.
生物医学研究领域目前正在推进基于真实世界证据的临床试验和转化项目。为了实现这一转变,临床中心需要努力实现数据可访问性和互操作性。当应用于基因组学时,这项任务尤其具有挑战性,因为基因组学在过去几年中通过大多数基于扩增子的下一代测序面板进入常规筛查。这些实验为每个患者产生多达数百个特征,其汇总结果通常存储在静态临床报告中,使得关键信息无法通过自动访问和联合搜索联盟获取。在这项研究中,我们对五个不同组织学背景下的 4620 个实体肿瘤测序样本进行了重新分析。此外,我们还描述了为创建能够处理常规基因组分析中生物技术多样性的体细胞变异注册中心而实施的所有生物信息学和数据工程流程。