Department of Pathology, Cincinnati Children's Hospital Medical Center, R.2040 240 Albert Sabin Way, Cincinnati, OH 45229, USA.
Clin Lab Med. 2022 Sep;42(3):409-421. doi: 10.1016/j.cll.2022.05.006. Epub 2022 Aug 22.
Clinical bioinformatics plays a key role in the implementation of clinical next-generation sequencing (NGS) testing infrastructure. Bioinformatics workflows in a clinical laboratory are complex and therefore need to be validated as part of an end-to-end NGS assay validation before clinical use. The validation cohort should be representative of the types of samples, types of variants, lower limits of detection of the assay, as well as sequence context of the panel. When validating an NGS bioinformatics pipeline, the pipeline validation lifecycle should be adhered to. Software containers and modern software automation tools can allow the building of a scalable and reliable clinical bioinformatics infrastructure and can be implemented in clinical bioinformatics operations in a phased way depending on the size and skillset of the bioinformatics team.
临床生物信息学在实施临床下一代测序（NGS）测试基础设施方面发挥着关键作用。临床实验室中的生物信息学工作流程很复杂，因此需要在临床使用前作为端到端 NGS 检测验证的一部分进行验证。验证队列应代表样本类型、变异类型、检测下限以及面板的序列背景。在验证 NGS 生物信息学管道时，应遵循管道验证生命周期。软件容器和现代软件自动化工具可以构建可扩展且可靠的临床生物信息学基础架构，并可以根据生物信息学团队的规模和技能集分阶段在临床生物信息学操作中实施。
