CRS4 leads the creation of the first genomic information models in the openEHR standard

As part of an international collaboration with the HiGHmed Genomics Group, Cecilia Mascia and Paolo Uva, researchers in the Data-intensive Computing and Biosciences Sectors, have just created the first models for genomic information using openEHR formalism.

openEHR is an international consortium that has been providing standardized tools for the semantic and computable description of clinical data for over 15 years through technical specifications, data models and software. Their activity is particularly focused on clinical data relevant to electronic medical records.

The new models developed at CRS4 have been reviewed and approved  by the Clinical Modelling Editorial Group of openEHR, and they are now publicly available within the openEHR Clinical Knowledge Manager. Thus, they are ready to support the semantic interoperability of data related to variants derived from the sequencing of the entire genome and exome, facilitating the sharing of information between different laboratories and the reuse of data in the long term.

These models will be among the topics of discussion at a workshop to be held by CRS4 this June, which will bring international experts in the field to the Science and Technology Park of Sardinia to discuss the potential and limitations of openEHR in the challenge of effectively representing the data needed for biomedical research.


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