Institute of Experimental Endocrinology and Oncology, National Research Council, Via Sergio Pansini, 5, 80131 Naples, Italy.
Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi, 53, 00144 Rome, Italy.
Brief Bioinform. 2024 Jul 25;25(5). doi: 10.1093/bib/bbae447.
Clinical Bioinformatics is a knowledge framework required to interpret data of medical interest via computational methods. This area became of dramatic importance in precision oncology, fueled by cancer genomic profiling: most definitions of Molecular Tumor Boards require the presence of bioinformaticians. However, all available literature remained rather vague on what are the specific needs in terms of digital tools and expertise to tackle and interpret genomics data to assign novel targeted or biomarker-driven targeted therapies to cancer patients. To fill this gap, in this article, we present a catalog of software families and human skills required for the tumor board bioinformatician, with specific examples of real-world applications associated with each element presented.
临床生物信息学是通过计算方法解释医学相关数据所需的知识框架。在肿瘤精准医学领域,这一领域变得非常重要,这得益于癌症基因组分析:大多数分子肿瘤委员会的定义都要求有生物信息学家的参与。然而,所有现有的文献在处理和解释基因组数据以将新的靶向或生物标志物驱动的靶向疗法分配给癌症患者方面,对于数字工具和专业知识的具体需求仍然相当模糊。为了填补这一空白,在本文中,我们提出了肿瘤委员会生物信息学家所需的软件系列和人类技能目录,并展示了与每个元素相关的实际应用的具体示例。