PT  - JOURNAL ARTICLE
AU  - Cecilia Mascia
AU  - Paolo Uva
AU  - Simone Leo
AU  - Gianluigi Zanetti
TI  - OpenEHR modeling for genomics in clinical practice
AID  - 10.1101/194720
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 194720
4099  - http://biorxiv.org/content/early/2017/09/28/194720.short
4100  - http://biorxiv.org/content/early/2017/09/28/194720.full
AB  - The increasing usage of high throughput sequencing in personalized medicine brings new challenges to the realm of healthcare informatics. Patient records need to accommodate data of unprecedented size and complexity as well as keep track of their production process. In this work we present a solution for integrating genomic data into electronic health records via openEHR archetypes. We introduce new genomics-specific archetypes based on the popular variant call format and show their applicability to a practical use case. Finally, we discuss their structure in comparison with the HL7® FHIR® standard.