The openEHR Genomics Project

Cecilia Mascia, Francesca Frexia, Paolo Uva, Gianluigi Zanetti, Luca Pireddu, Gideon Giacomelli, Christina Jaeger-Schmidt, Aurelie Tomczak, Simon Schumacher, Florian Kraecher, Roland Eils, Silje Ljosland Bakke, Heather Leslie
Digital Personalized Health and Medicine - Proceedings of MIE 2020, Volume Volume 270, page 443 - 447 - 2020
Download the publication : SHTI-270-SHTI200199.pdf [148Ko]  
Current high-throughput sequencing technologies allow us to acquire entire genomes in a very short time and at a relatively sustainable cost, thus resulting in an increasing diffusion of genetic test capabilities, in specialized clinical laboratories and research centers. In contrast, it is still limited the impact of genomic information on clinical decisions, as an effective interpretation is a challenging task. From the technological point of view, genomic data are big in size, have a complex granular nature and strongly depend on the computational steps of the generation and processing workflows. This article introduces our work to create the openEHR Genomic Project and the set of genomic information models we developed to catch such complex structure and to preserve data provenance efficiently in a machinereadable format. The models support clinical actionability of data, by improving their quality, fostering interoperability and laying the basis for re-usability.

BibTex references

  author       = {Mascia, C. and Frexia, F. and Uva, P. and Zanetti, G. and Pireddu, L. and Giacomelli, G. and Jaeger-Schmidt, C. and Tomczak, A. and Schumacher, S. and Kraecher, F. and Eils, R. and Bakke, S. and Leslie, H.},
  title        = {The openEHR Genomics Project},
  booktitle    = {Digital Personalized Health and Medicine - Proceedings of MIE 2020},
  series       = {Studies in Health Technology and Informatics},
  volume       = {Volume 270},
  pages        = {443 - 447},
  year         = {2020},
  publisher    = {IOS Press},
  organization = {European Federation for Medical Informatics (EFMI)},
  keywords     = {genomic models, openEHR, mutations, variations, structured data},
  doi          = {10.3233/SHTI200199},
  url          = {},

Other publications in the database

» Cecilia Mascia
» Francesca Frexia
» Paolo Uva
» Gianluigi Zanetti
» Luca Pireddu
» Gideon Giacomelli
» Christina Jaeger-Schmidt
» Aurelie Tomczak
» Simon Schumacher
» Florian Kraecher
» Roland Eils
» Silje Ljosland Bakke
» Heather Leslie