对基因进行同步第5阶段:用于共享动态注释的FHIR格式基因组变体的可计算工件.
Robert Dolin1, Bret S E Heale2, Rohan Gupta3
1Elimu Informatics El Cerrito California USA.
Learning health systems
|October 20, 2023
概括
动态注释遗传变异可确保临床医生拥有最新的信息,用于决策. 这种方法标准化了基因组知识共享,以改善临床决策支持 (CDS).
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 临床决策支持 临床决策支持
背景情况:
- 变异注释对于解释下一代测序数据至关重要.
- 基因组知识迅速发展,使静态注释变得过时.
- 临床决策需要当前和准确的变种背景.
研究的目的:
- 为了标准化动态注释变体的共享.
- 为了使临床决策支持 (CDS) 应用程序能够提供实时变体注释.
- 开发可计算的生物医学知识文物,用于按需注释.
主要方法:
- 使用健康7级快速医疗互操作性资源 (FHIR) 基因组学和全球基因组学和健康联盟 (GA4GH) 变体注释 (VA) 标准.
- 开发了一个CDS管道,用于使用ClinVar,CIViC和PharmGKB作为知识来源的动态变体注释.
- 根据GA4GH VA规范编码知识源,并通过FHIR Genomics Operations提供注释.
主要成果:
- 创建了一个包含源代码的 GitHub 存储库,一个用于交互的 Swagger 接口,以及一个用于合成/匿名数据的数据库.
- 证明生物信息学策略可以提高自动注释的准确性.
- 展示了标准化基因组知识库和动态CDS的可行生态系统.
结论:
- 变体注释的复杂性因变体类型而异.
- 标准化的基因组知识库和动态的CDS应用程序可以提供实时,最新的临床决策支持.
- 这种方法为利用当前的基因组知识在护理点提供了一个生态系统.
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