ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
Expert Rev Mol Diagn. 2013 Jul;13(6):529-40. doi: 10.1586/14737159.2013.811907.
Next-generation sequencing is being implemented in the clinical laboratory environment for the purposes of candidate causal variant discovery in patients affected with a variety of genetic disorders. The successful implementation of this technology for diagnosing genetic disorders requires a rapid, user-friendly method to annotate variants and generate short lists of clinically relevant variants of interest. This report describes Omicia's Opal platform, a new software tool designed for variant discovery and interpretation in a clinical laboratory environment. The software allows clinical scientists to process, analyze, interpret and report on personal genome files.
MATERIALS & METHODS: To demonstrate the software, the authors describe the interactive use of the system for the rapid discovery of disease-causing variants using three cases.
RESULTS & CONCLUSION: Here, the authors show the features of the Opal system and their use in uncovering variants of clinical significance.
下一代测序技术正在临床实验室环境中实施，目的是在受各种遗传疾病影响的患者中发现候选因果变异。为了成功地将这项技术用于诊断遗传疾病，需要一种快速、用户友好的方法来注释变异，并生成感兴趣的临床相关变异的简短列表。本报告介绍了 Omicia 的 Opal 平台，这是一种专为临床实验室环境中的变异发现和解释而设计的新软件工具。该软件允许临床科学家处理、分析、解释和报告个人基因组文件。
为了演示该软件，作者描述了使用三个案例快速发现致病变异时系统的交互使用。
在这里，作者展示了 Opal 系统的功能及其在发现具有临床意义的变异中的应用。
