Contribution of CRS4 to the 7th Plenary Assembly of the Global Alliance for Genomics and Health (GA4GH)

Francesca Frexia brings the experience of CRS4 on semantic interoperability for clinical and genomic data to the 7th Plenary Meeting of the Global Alliance for Genomics and Health (GA4GH) Association, taking place from 21 to 23 October 2019 in Boston, presenting the poster "Open standards for semantic interoperability of clinical and genomic data: a proof-of-concept bridging openEHR, Phenopacket and FHIR".

The poster describes the preliminary results of a collaboration between the Data-intensive Computing and Biosciences Sectors at CRS4 with the openEHR Foundation, the German HiGHmed Consortium and the Spanish Company VeraTech.

The aim of this work is to combine the quality of detailed genomic and phenotypic information modeled in the openEHR format with the exchange and sharing potentialities offered by the HL7-FHIR standard and by the Phenopacket format; this latter, more specifically, has been developed by GA4GH to encourage synergy between clinical organizations and research groups in the creation of more comprehensive models of diseases such as oncology or rare diseases.

The Global Alliance for Genomics and Health is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework.

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