University of Utah, Salt Lake City, UT, USA.
Sci Rep. 2021 Oct 13;11(1):20307. doi: 10.1038/s41598-021-99752-5.
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly complex or uncertain genomic findings. Here, we present gene.iobio, a real-time, intuitive and interactive web application for clinically-driven variant interrogation and prioritization. We show gene.iobio is a novel and effective approach that significantly improves upon and reimagines existing methods. In a radical departure from existing methods that present variants and genomic data in text and table formats, gene.iobio provides an interactive, intuitive and visually-driven analysis environment. We demonstrate that adoption of gene.iobio in clinical and research settings empowers clinical care providers to interact directly with patient genomic data both for establishing clinical diagnoses and informing patient care, using sophisticated genomic analyses that previously were only accessible via complex command line tools.
随着综合基因组数据在临床护理中的应用日益增多，预计在许多临床环境中将成为标准护理，诊断医学的实践正在发生显著转变。然而，从单基因或基于面板的基因检测到外显子组和基因组测序的转变，并没有伴随着能够使诊断医生解读日益复杂或不确定的基因组发现的工具的发展。在这里，我们展示了 gene.iobio，这是一个用于临床驱动的变异检测和优先级排序的实时、直观和交互式网络应用程序。我们表明，gene.iobio 是一种新颖而有效的方法，大大改进和重新构想了现有的方法。与现有的以文本和表格格式呈现变体和基因组数据的方法截然不同，gene.iobio 提供了一个交互式、直观和视觉驱动的分析环境。我们证明，在临床和研究环境中采用 gene.iobio 可以使临床护理提供者直接与患者的基因组数据交互，无论是用于建立临床诊断还是为患者护理提供信息，都可以使用以前只能通过复杂的命令行工具访问的复杂基因组分析。
