FHIR Genomics: enabling standardization for precision medicine use cases
FHIR Genomics: enabling standardization for precision medicine use cases
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DOI：
10.1038/s41525-020-0115-6
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发表时间：
2020-03-18
影响因子：
5.3
通讯作者：
Warner, Jeremy L.
中科院分区：
文献类型：
--
作者：
Alterovitz, Gil;Heale, Bret;Warner, Jeremy L.
快速医疗保健互操作性资源（FHIR）基因组学的发展，一个可行的和有效的方法交换复杂的临床基因组数据和解释，进行了说明。FHIR Genomics是新兴的Health Level 7 FHIR标准的一个子集，目标是来自日益可用的技术（如下一代测序）的数据。已经采取了大量的护理和反馈集成，以简化实施，促进大规模的互操作性，并使现代应用程序开发成为一个完整的精准医学标准。描述了一个新的用例，将癌症联盟（VICC）的变体解释“元知识库”集成到第三方应用程序中。
The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) "meta-knowledgebase" into a third-party application, is described.