modellbibliotek / gms_informatics_tests

openEHR templates & archetypes + termonology/ontology for experiments in "Skalbara informatiklösningar" (Scalable solutions for informatics) a subproject https://genomicmedicine.se/

GMS_informatics_tests

openEHR templates & archetypes + termonology/ontology for experiments in "Skalbara informatiklösningar" (Scalable solutions for informatics) a subproject https://genomicmedicine.se/

Current experimentation is preformed by Ulrika Hermansson (VGR), Nina Norgren (UMU), Carina Sandell (RÖ) & Erik Sundvall (LiU + RÖ (in August Karolinska))

For tool info & setup, the same instructions as used at https://github.com/modellbibliotek/klinfys-register can be followed. If you are part of GMS and need a password ask [email protected] or in the GMS slack.

More details in files:

• Use-cases and queries https://github.com/modellbibliotek/GMS_informatics_tests/blob/master/queries.md
• Experiment iteration 1: https://github.com/modellbibliotek/GMS_informatics_tests/blob/master/iteration1.md
• ...

openEHR & HL7 FHIR genomics background material

• Poster: http://publications.crs4.it/pubdocs/2019/FMULDZLBMGB19/2019_10_GA4GH_poster_CRS4.pdf and associated abstract https://www.researchgate.net/publication/340176024_Open_standards_for_semantic_interoperability_of_clinical_and_genomic_data_a_proof-of-concept_bridging_openEHR_Phenopacket_and_FHIR

• Phenopackets in HL7 FHIR

  • GA4GH Phenopacket (version 2) FHIR Implementation Guide http://phenopackets.org/core-ig/

• Phenotypes & Phenopackets in openEHR

  • Phenopackets demonstrator from 2019 - https://ckm.openehr.org/ckm/incubators/1013.30.79
  • Phenotype-template describing family/relationship: https://ckm.openehr.org/ckm/templates/1013.26.235/orgchart