Literature DB >> 33579955

FHIR Genomics: enabling standardization for precision medicine use cases.

Gil Alterovitz1,2, Bret Heale3, James Jones4, David Kreda5, Fan Lin4,6, Lei Liu4, Xin Liu4, Kenneth D Mandl4,7, David W Poloway4, Rachel Ramoni8, Alex Wagner9, Jeremy L Warner10.   

Abstract

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.

Year:  2020        PMID: 33579955     DOI: 10.1038/s41525-020-0115-6

Source DB:  PubMed          Journal:  NPJ Genom Med        ISSN: 2056-7944            Impact factor:   8.617


  1 in total

1.  Driving Innovation in Health Systems through an Apps-Based Information Economy.

Authors:  Kenneth D Mandl; Joshua C Mandel; Isaac S Kohane
Journal:  Cell Syst       Date:  2015-07       Impact factor: 10.304

  1 in total

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