phenopackets / domain-analysis

The goal of this repository is to collect and develop domain analysis content for the phenotypic domain.
https://phenopackets-analysis.rtfd.io/
Apache License 2.0
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In July of 2019 the NIH issued a notice (NOT-OD-19-122) to encourage investigators to explore the current uses of FHIR in research to ultimately improve methods for clinical researchers to use, standardize, and share electronic health data. The Broad Institute as a host institution for the Global Alliance for Genomics and Health (GA4GH) was one of two sites awarded a contract to pursue these goals under NIH/NLM contract #75N97019P00280, in partnership with the Jackson Lab, Oregon Health & Science University, Oregon State University, and Mayo Clinic. The project goals are to:

  1. coordinate with the appropriate HL7 FHIR work group(s) and develop a FHIR Implementation Guide (IG) based on the data modeled in the GA4GH Phenopackets schema,
  2. identify sets of translational research partners to demonstrate data exchange using FHIR application programing interfaces (APIs) for selected use cases,
  3. develop Driver Use Cases to inform IG development and for pilot-testing,
  4. support pilot-testing,
  5. compile pilot test results into a report,
  6. provide feedback to HL7 to revise relevant FHIR resources, profiles, and/or IGs,
  7. provide feedback to GA4GH on Phenopackets schema and application to use cases, and
  8. disseminate deliverables and obtain feedback for future development.

The Domain Analysis Document being developed in this GitHub repository addresses goal 3, 4, and provides conceptual and technical guidance for the community in order to enhance the understanding and use of FHIR in clinical research.